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Tytuł :
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Autorzy :
Trucco F; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Ridout D; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Scoto M; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Coratti G; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Main ML; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Muni Lofra R; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Mayhew AG; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Montes J; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Pane M; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Sansone V; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Albamonte E; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
D'Amico A; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Bertini E; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Messina S; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Bruno C; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Parasuraman D; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Childs AM; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Gowda V; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Willis T; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Ong M; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Marini-Bettolo C; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
De Vivo DC; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Darras BT; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Day J; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Kichula EA; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Mayer OH; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Navas Nazario AA; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Finkel RS; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Mercuri E; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Muntoni F; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL. .
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Corporate Authors :
International SMA Consortium (iSMAc)
Źródło :
Neurology [Neurology] 2021 Jan 26; Vol. 96 (4), pp. e587-e599. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Internationality*
Respiration Disorders/*diagnosis
Respiration Disorders/*epidemiology
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*epidemiology
Adolescent ; Child ; Cohort Studies ; Female ; Follow-Up Studies ; Humans ; Male ; Respiration Disorders/physiopathology ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood/physiopathology
Czasopismo naukowe
Tytuł :
Clinical Variability in Spinal Muscular Atrophy Type III.
Autorzy :
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Montes J; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, NY.
Pasternak A; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Bovis F; Department of Health Sciences (DISSAL), University of Genova, Genoa, Italy.
Exposito Escudero J; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Déu, ISCIII, CIBERER, Barcelona, Spain.
Mazzone ES; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Mayhew A; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Glanzman AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA.
Young SD; Department of Neurology, Stanford University, Stanford, CA.
Salazar R; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Duong T; Department of Neurology, Stanford University, Stanford, CA.
Muni Lofra R; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
De Sanctis R; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Carnicella S; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Milev E; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Civitello M; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN.
Pane M; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Bettolo CM; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Frongia A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Sframeli M; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Vita GL; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Van Den Hauwe M; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Albamonte E; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Darras BT; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Sansone V; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
Day J; Department of Neurology, Stanford University, Stanford, CA.
Nascimento Osorio A; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Déu, ISCIII, CIBERER, Barcelona, Spain.
Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
De Vivo DC; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
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Źródło :
Annals of neurology [Ann Neurol] 2020 Dec; Vol. 88 (6), pp. 1109-1117. Date of Electronic Publication: 2020 Oct 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*genetics
Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Disease Progression ; Female ; Gene Dosage/genetics ; Humans ; Male ; Models, Neurological ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.
Autorzy :
Dunaway Young S; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
Montes J; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Salazar R; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Physical Therapy and Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
Mirek E; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Physical Therapy and Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
Martens W; Department of Neurology, University of Rochester, Rochester, NY, USA.
Finkel RS; Department of Pediatrics, Division of Neurology, Nemours Children's Hospital, Orlando, FL, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
De Vivo DC; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 183-192.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Orthopedic Procedures*/adverse effects
Outcome and Process Assessment, Health Care*
Postoperative Complications*
Movement Disorders/*physiopathology
Scoliosis/*surgery
Spinal Muscular Atrophies of Childhood/*physiopathology
Spinal Muscular Atrophies of Childhood/*surgery
Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Male ; Movement Disorders/etiology ; Scoliosis/etiology ; Spinal Muscular Atrophies of Childhood/complications
Czasopismo naukowe
Tytuł :
Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.
Autorzy :
Darras BT; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA. .
Chiriboga CA; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Iannaccone ST; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Swoboda KJ; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Montes J; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Mignon L; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Xia S; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Bennett CF; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Bishop KM; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Shefner JM; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Green AM; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Sun P; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Bhan I; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Gheuens S; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Schneider E; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
Farwell W; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
De Vivo DC; From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.
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Corporate Authors :
ISIS-396443-CS2/ISIS-396443-CS12 Study Groups
Źródło :
Neurology [Neurology] 2019 May 21; Vol. 92 (21), pp. e2492-e2506. Date of Electronic Publication: 2019 Apr 24.
Typ publikacji :
Clinical Trial, Phase I; Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Oligonucleotides/*therapeutic use
Spinal Muscular Atrophies of Childhood/*drug therapy
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Revised upper limb module for spinal muscular atrophy: 12 month changes.
Autorzy :
Pera MC; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Coratti G; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Mazzone ES; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Montes J; Departments of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, USA.; Departments of Neurology, Columbia University Medical Center, New York, USA.
Scoto M; Dubowitz Neuromuscular Centre and NIHR Great Ormond Street Hospital Biomedical Research Centre, Institute of Child Health & Great Ormond Street Hospital, London, UK.
De Sanctis R; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Main M; Dubowitz Neuromuscular Centre and NIHR Great Ormond Street Hospital Biomedical Research Centre, Institute of Child Health & Great Ormond Street Hospital, London, UK.
Mayhew A; John Walton Muscular Dystrophy Research Centre, Newcastle University, UK.
Muni Lofra R; John Walton Muscular Dystrophy Research Centre, Newcastle University, UK.
Dunaway Young S; Departments of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, USA.; Departments of Neurology, Columbia University Medical Center, New York, USA.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia.
Duong T; Department of Neurology, Stanford University, Stanford, California, USA.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Physical Therapy and Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
Ramsey D; Dubowitz Neuromuscular Centre and NIHR Great Ormond Street Hospital Biomedical Research Centre, Institute of Child Health & Great Ormond Street Hospital, London, UK.
Darras B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Day JW; Department of Neurology, Stanford University, Stanford, California, USA.
Finkel RS; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
De Vivo DC; Departments of Neurology, Columbia University Medical Center, New York, USA.
Sormani MP; Department of Health Sciences (DISSAL), Section of Biostatistics, University of Genova, Genova, Italy.
Bovis F; Department of Health Sciences (DISSAL), Section of Biostatistics, University of Genova, Genova, Italy.
Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University, UK.
Muntoni F; Dubowitz Neuromuscular Centre and NIHR Great Ormond Street Hospital Biomedical Research Centre, Institute of Child Health & Great Ormond Street Hospital, London, UK.
Pane M; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Mercuri E; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
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Corporate Authors :
iSMAC Consortium Group
Źródło :
Muscle & nerve [Muscle Nerve] 2019 Apr; Vol. 59 (4), pp. 426-430. Date of Electronic Publication: 2019 Feb 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal/*pathology
Spinal Muscular Atrophies of Childhood/*pathology
Upper Extremity/*pathology
Adolescent ; Adult ; Algorithms ; Child ; Child, Preschool ; Disease Progression ; Female ; Health Status ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Reference Standards ; Walking ; Young Adult
Czasopismo naukowe
Tytuł :
Precious SMA natural history data: A benchmark to measure future treatment successes.
Autorzy :
Darras BT; From the Department of Neurology (B.T.D.), Neuromuscular Program, Boston Children's Hospital, and Harvard Medical School, Boston, MA; and Pediatric Neurology Service at Columbia University Irving Medical Center (D.C.D.), New York, NY. .
De Vivo DC; From the Department of Neurology (B.T.D.), Neuromuscular Program, Boston Children's Hospital, and Harvard Medical School, Boston, MA; and Pediatric Neurology Service at Columbia University Irving Medical Center (D.C.D.), New York, NY.
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Źródło :
Neurology [Neurology] 2018 Aug 21; Vol. 91 (8), pp. 337-339. Date of Electronic Publication: 2018 Jul 25.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood*
Adult ; Benchmarking ; Child ; Humans ; Infant
Opinia redakcyjna
Tytuł :
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
Autorzy :
Mercuri E; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Darras BT; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Chiriboga CA; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Day JW; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Campbell C; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Connolly AM; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Iannaccone ST; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Kirschner J; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Kuntz NL; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Saito K; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Shieh PB; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Tulinius M; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Mazzone ES; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Montes J; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Bishop KM; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Yang Q; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Foster R; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Gheuens S; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Bennett CF; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Farwell W; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Schneider E; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
De Vivo DC; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
Finkel RS; From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).
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Corporate Authors :
CHERISH Study Group
Źródło :
The New England journal of medicine [N Engl J Med] 2018 Feb 15; Vol. 378 (7), pp. 625-635.
Typ publikacji :
Clinical Trial, Phase III; Comparative Study; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Oligonucleotides/*therapeutic use
Oligonucleotides, Antisense/*therapeutic use
Spinal Muscular Atrophies of Childhood/*drug therapy
Age of Onset ; Child ; Child, Preschool ; Double-Blind Method ; Female ; Humans ; Infant ; Injections, Spinal ; Least-Squares Analysis ; Male ; Motor Skills ; Oligonucleotides/adverse effects ; Oligonucleotides, Antisense/adverse effects ; Spinal Muscular Atrophies of Childhood/physiopathology
Czasopismo naukowe
Tytuł :
Evaluator Training and Reliability for SMA Global Nusinersen Trials1.
Autorzy :
Glanzman AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mazzone ES; Department of Neurology, Catholic University, Rome, Italy.
Young SD; Department of Neurology, Columbia University, New York, NY, USA.; Department of Rehabilitation andRegenerative Medicine, Columbia University, New York, NY, USA.
Gee R; Department of Physical Therapy, Lucile Packard, Children's Hospital Stanford, CA, USA.
Rose K; Sydney University, Sydney, Australia.
Mayhew A; Newcastle University, Newcastle, UK.
Nelson L; UT Southwestern Medical Center, Dallas, TX, USA.
Yun C; Lexa Enterprises, Inc., USA.
Alexander K; Ionis Pharmaceuticals, Carlsbad, CA, USA.
Darras BT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Zolkipli-Cunningham Z; Division of Neurology, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Tennekoon G; Division of Neurology, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Day JW; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
Finkel RS; Department of Neurology, NemoursChildren's Hospital, Orlando, FL, USA.
Mercuri E; Department of Neurology, Catholic University, Rome, Italy.
De Vivo DC; Department of Neurology, Columbia University, New York, NY, USA.
Baldwin R; Ionis Pharmaceuticals, Carlsbad, CA, USA.
Bishop KM; Ionis Pharmaceuticals, Carlsbad, CA, USA.
Montes J; Department of Neurology, Columbia University, New York, NY, USA.; Department of Rehabilitation andRegenerative Medicine, Columbia University, New York, NY, USA.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2018; Vol. 5 (2), pp. 159-166.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Clinical Competence*
Observer Variation*
Teaching*
Oligonucleotides/*therapeutic use
Oligonucleotides, Antisense/*therapeutic use
Physical Therapists/*education
Spinal Muscular Atrophies of Childhood/*drug therapy
Clinical Trials as Topic ; Humans ; Infant ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Autorzy :
Finkel RS; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Mercuri E; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Darras BT; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Connolly AM; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Kuntz NL; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Kirschner J; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Chiriboga CA; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Saito K; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Servais L; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Tizzano E; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Topaloglu H; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Tulinius M; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Montes J; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Glanzman AM; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Bishop K; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Zhong ZJ; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Gheuens S; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Bennett CF; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Schneider E; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Farwell W; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
De Vivo DC; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
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Corporate Authors :
ENDEAR Study Group
Źródło :
The New England journal of medicine [N Engl J Med] 2017 Nov 02; Vol. 377 (18), pp. 1723-1732.
Typ publikacji :
Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial
MeSH Terms :
Oligonucleotides/*therapeutic use
Oligonucleotides, Antisense/*therapeutic use
Spinal Muscular Atrophies of Childhood/*drug therapy
Age of Onset ; Disease-Free Survival ; Double-Blind Method ; Female ; Humans ; Infant ; Injections, Spinal ; Male ; Motor Skills ; Oligonucleotides/adverse effects ; Oligonucleotides, Antisense/adverse effects ; RNA, Messenger/drug effects ; RNA, Messenger/metabolism ; Respiration, Artificial ; Spinal Muscular Atrophies of Childhood/genetics ; Spinal Muscular Atrophies of Childhood/mortality ; Spinal Muscular Atrophies of Childhood/physiopathology ; Survival Analysis ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
Autorzy :
Pera MC; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Coratti G; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Forcina N; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Mazzone ES; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Montes J; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Mayhew A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
Messina S; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy.
Sframeli M; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy.
Main M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Lofra RM; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
Duong T; Stanford University, Palo Alto, CA, USA.
Ramsey D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Dunaway S; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Salazar R; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Fanelli L; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Civitello M; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
de Sanctis R; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Antonaci L; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Lapenta L; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Lucibello S; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Pane M; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Day J; Stanford University, Palo Alto, CA, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Mercuri E; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy. .
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Źródło :
BMC neurology [BMC Neurol] 2017 Feb 23; Vol. 17 (1), pp. 39. Date of Electronic Publication: 2017 Feb 23.
Typ publikacji :
Journal Article; Validation Study
MeSH Terms :
Severity of Illness Index*
Muscular Atrophy, Spinal/*psychology
Spinal Muscular Atrophies of Childhood/*psychology
Activities of Daily Living ; Adolescent ; Adult ; Caregivers/psychology ; Child ; Female ; Focus Groups ; Humans ; Male ; Outcome Assessment, Health Care ; Patients/psychology ; Young Adult
Czasopismo naukowe
Tytuł :
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
Autorzy :
Finkel RS; Nemours Children's Hospital, Orlando, FL, USA. Electronic address: .
Chiriboga CA; Columbia University Medical Center, New York, NY, USA.
Vajsar J; University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.
Day JW; Stanford University School of Medicine, Stanford, CA, USA.
Montes J; Columbia University Medical Center, New York, NY, USA.
De Vivo DC; Columbia University Medical Center, New York, NY, USA.
Yamashita M; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Rigo F; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Hung G; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Schneider E; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Norris DA; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Xia S; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Bennett CF; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
Bishop KM; Ionis Pharmaceuticals, Inc, Carlsbad, CA, USA.
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Źródło :
Lancet (London, England) [Lancet] 2016 Dec 17; Vol. 388 (10063), pp. 3017-3026. Date of Electronic Publication: 2016 Dec 07.
Typ publikacji :
Clinical Trial, Phase II; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Patient Safety*
Oligonucleotides/*administration & dosage
Spinal Muscular Atrophies of Childhood/*drug therapy
Female ; Humans ; Injections, Spinal ; Male ; Mutation ; Oligonucleotides/adverse effects ; Oligonucleotides/pharmacokinetics ; RNA, Messenger/genetics
Czasopismo naukowe
Tytuł :
Developmental milestones in type I spinal muscular atrophy.
Autorzy :
De Sanctis R; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Coratti G; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Montes J; Department of Neurology, Columbia University Medical Center, New York, USA.
Pane M; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Mazzone ES; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Young SD; Department of Neurology, Columbia University Medical Center, New York, USA.
Salazar R; Department of Neurology, Columbia University Medical Center, New York, USA.
Quigley J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Pera MC; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Antonaci L; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Lapenta L; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, USA.
Tiziano D; Institute of Genetics, Catholic University, Rome, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Mercuri E; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Nov; Vol. 26 (11), pp. 754-759. Date of Electronic Publication: 2016 Oct 05.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Spinal Muscular Atrophies of Childhood/*physiopathology
Child Development ; Child, Preschool ; Disease Progression ; Humans ; Infant ; Longitudinal Studies ; Motor Skills ; Neurologic Examination ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood/therapy
Czasopismo naukowe
Tytuł :
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.
Autorzy :
Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy. Electronic address: .
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Montes J; Department of Neurology, Columbia University Medical Center, New York, USA.
Mazzone ES; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy.
Main M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Ramsey D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Mayhew A; Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dunaway S; Department of Neurology, Columbia University Medical Center, New York, USA.
Salazar R; Department of Neurology, Columbia University Medical Center, New York, USA.
Pasternak A; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Quigley J; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Pera MC; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Messina S; Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
Sframeli M; Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
Vita GL; Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
van den Hauwe M; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Sivo S; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Kaufmann P; Department of Neurology, Columbia University Medical Center, New York, USA.
Darras BT; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Feb; Vol. 26 (2), pp. 126-31. Date of Electronic Publication: 2015 Dec 03.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Progression*
Mobility Limitation*
Spinal Muscular Atrophies of Childhood/*physiopathology
Adolescent ; Adult ; Child ; Child, Preschool ; Clinical Trials as Topic ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Old measures and new scores in spinal muscular atrophy patients.
Autorzy :
Mazzone E; Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Montes J; Department of Neurology, Columbia University Medical Center, New York, USA.
Main M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Mayhew A; Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
Ramsey D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Dunaway S; Department of Neurology, Columbia University Medical Center, New York, USA.
Salazar R; Department of Neurology, Columbia University Medical Center, New York, USA.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Quigley J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Pane M; Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Pera MC; Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Messina S; Department of Neurosciences, University of Messina, Messina, Italy.
Sframeli M; Department of Neurosciences, University of Messina, Messina, Italy.
D'amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Van Den Hauwe M; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Sivo S; Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Kaufmann P; Department of Neurology, Columbia University Medical Center, New York, USA.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, Florida, USA.
Mercuri E; Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
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Źródło :
Muscle & nerve [Muscle Nerve] 2015 Sep; Vol. 52 (3), pp. 435-7. Date of Electronic Publication: 2015 Jul 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Severity of Illness Index*
Spinal Muscular Atrophies of Childhood/*physiopathology
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Muscular Atrophy, Spinal/physiopathology ; Psychometrics ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Reply: To PMID 23893312.
Autorzy :
Kang PB; Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.
Gooch CL
McDermott MP
Darras BT
Finkel RS
Yang ML
Sproule DM
Chung WK
Kaufmann P
De Vivo DC
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Corporate Authors :
Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy
Źródło :
Muscle & nerve [Muscle Nerve] 2014 Sep; Vol. 50 (3), pp. 458-9. Date of Electronic Publication: 2014 Aug 05.
Typ publikacji :
Letter; Comment
MeSH Terms :
Action Potentials/*physiology
Adaptation, Physiological/*physiology
Motor Neurons/*physiology
Muscle, Skeletal/*physiopathology
Spinal Muscular Atrophies of Childhood/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Female ; Humans ; Male
Opinia redakcyjna
Tytuł :
Observational study of spinal muscular atrophy type I and implications for clinical trials.
Autorzy :
Finkel RS; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL. .
McDermott MP; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Kaufmann P; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Darras BT; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Chung WK; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Sproule DM; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Kang PB; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Foley AR; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Yang ML; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Martens WB; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Oskoui M; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Glanzman AM; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Flickinger J; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Montes J; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Dunaway S; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
O'Hagen J; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Quigley J; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Riley S; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Benton M; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Ryan PA; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Montgomery M; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Marra J; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Gooch C; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
De Vivo DC; From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
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Źródło :
Neurology [Neurology] 2014 Aug 26; Vol. 83 (9), pp. 810-7. Date of Electronic Publication: 2014 Jul 30.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Research Design*
Spinal Muscular Atrophies of Childhood*
Cohort Studies ; Female ; Humans ; Infant ; Male
Czasopismo naukowe
Tytuł :
The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
Autorzy :
Kang PB; Department of Neurology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.
Gooch CL
McDermott MP
Darras BT
Finkel RS
Yang ML
Sproule DM
Chung WK
Kaufmann P
de Vivo DC
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Corporate Authors :
Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy
Źródło :
Muscle & nerve [Muscle Nerve] 2014 May; Vol. 49 (5), pp. 636-44.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Action Potentials/*physiology
Adaptation, Physiological/*physiology
Motor Neurons/*physiology
Muscle, Skeletal/*physiopathology
Spinal Muscular Atrophies of Childhood/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Electromyography ; Exons ; Female ; Gene Deletion ; Homozygote ; Humans ; Infant ; Linear Models ; Longitudinal Studies ; Male ; Middle Aged ; Muscle, Skeletal/innervation ; Prospective Studies ; Spinal Muscular Atrophies of Childhood/physiopathology ; Young Adult
Czasopismo naukowe
Tytuł :
Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2.
Autorzy :
Sproule DM; Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA.
Hasnain R
Koenigsberger D
Montgomery M
De Vivo DC
Kaufmann P
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Źródło :
Journal of child neurology [J Child Neurol] 2012 Jul; Vol. 27 (7), pp. 845-51. Date of Electronic Publication: 2012 Mar 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*diagnosis
Developmental Disabilities/*etiology
Spinal Muscular Atrophies of Childhood/*complications
Age of Onset ; Anthropometry ; Child, Preschool ; Cohort Studies ; Developmental Disabilities/mortality ; Female ; Humans ; Infant ; Infant, Newborn ; Kaplan-Meier Estimate ; Likelihood Functions ; Male ; Predictive Value of Tests ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Spinal muscular atrophy type III: trying to understand subtle functional change over time--a case report.
Autorzy :
Dunaway S; SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032, USA. />Montes J
Ryan PA
Montgomery M
Sproule DM
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 2012 Jun; Vol. 27 (6), pp. 779-85. Date of Electronic Publication: 2011 Dec 07.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Motor Activity/*physiology
Muscle Strength/*physiology
Recovery of Function/*physiology
Spinal Muscular Atrophies of Childhood/*physiopathology
Anticonvulsants/therapeutic use ; Child ; Early Intervention, Educational ; Exhalation/physiology ; Female ; Humans ; Longitudinal Studies ; Outcome Assessment, Health Care ; Spinal Muscular Atrophies of Childhood/diagnosis ; Spinal Muscular Atrophies of Childhood/therapy ; Valproic Acid/therapeutic use ; Walking/physiology
Czasopismo naukowe

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