Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.
Autorzy:
Ayyar Gupta V; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Pitchforth JM; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Domingos J; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Ridout D; Population, Policy & Practice Research and Teaching Department, UCL Great Ormond Street (GOS) Institute of Child Health, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Iodice M; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Rye C; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Chesshyre M; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Wolfe A; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Selby V; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Mayhew A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. MazzoneES; Child Neurology Unite Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy. Ricotti V; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Hogrel JY; Institute of Myology, Paris, France. Niks EH; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.; European Reference Network for Rare Neuromuscular Diseases - ERN EURO NMD. de Groot I; Department of Rehabilitation, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands. Servais L; Institute of Myology, Paris, France.; Division of Child Neurology, Reference Center for Neuromuscular Disease, Centre Hospitalier Régional de Références des Maladies Neuromusculaires, Department of Paediatrics, University Hospital Liège & University of La Citadelle, Liège, Belgium.; Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, United Kingdom. Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. Mercuri E; Child Neurology Unite Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy.; Child Neurology Unit, Universita Cattolica del Sacro Cuore, Rome, Italy. Manzur AY; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom. Muntoni F; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
Autorzy:
Stimpson G; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Ramsey D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; School of Health and Sports Sciences, University of Suffolk, Ipswich IP4 1QJ, UK. Wolfe A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Mayhew A; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK. Scoto M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Baranello G; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK. Muni Lofra R; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK. Main M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Milev E; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Coratti G; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy. Pane M; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy. Sansone V; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Messina S; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy. Bruno C; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy. Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy. MazzoneES; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy. Montes J; Columbia University Irving Medical Center, New York, NY 10032, USA. Glanzman AM; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Zolkipli-Cunningham Z; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA. Pasternak A; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Duong T; Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA. Dunaway Young S; Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA. Civitello M; Nemours Children's Hospital and University of Central Florida College of Medicine, Orlando, FL 32827, USA.; St. Jude Children's Research Hospital, Memphis, TN 38105, USA. Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK. Day JW; Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA. Darras BT; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. De Vivo DC; Columbia University Irving Medical Center, New York, NY 10032, USA. Finkel RS; Nemours Children's Hospital and University of Central Florida College of Medicine, Orlando, FL 32827, USA.; St. Jude Children's Research Hospital, Memphis, TN 38105, USA. Mercuri E; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy. Muntoni F; School of Health and Sports Sciences, University of Suffolk, Ipswich IP4 1QJ, UK.; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK.
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.
Autorzy:
Montes J; Departments of Neurology, Columbia University Medical Center, New York, NY, United States of America.; Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, NY, United States of America. McDermott MP; Department of Neurology, University of Rochester, Rochester, NY, United States of America.; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY, United States of America. Mirek E; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Department of Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, MA, United States of America. MazzoneES; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Main M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America. Duong T; Departments of Neurology and Pediatrics, Stanford University School of Medicine, Stanford, CA, United States of America. Young SD; Departments of Neurology, Columbia University Medical Center, New York, NY, United States of America.; Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, NY, United States of America. Salazar R; Departments of Neurology, Columbia University Medical Center, New York, NY, United States of America. Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Department of Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, MA, United States of America. Gee R; Departments of Neurology and Pediatrics, Stanford University School of Medicine, Stanford, CA, United States of America. De Sanctis R; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Coratti G; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Forcina N; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Fanelli L; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Ramsey D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Milev E; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Civitello M; Nemours Children's Hospital, Orlando, FL, United States of America. Pane M; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Pera MC; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Scoto M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Day JW; Departments of Neurology and Pediatrics, Stanford University School of Medicine, Stanford, CA, United States of America. Tennekoon G; Departments of Neurology, Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States of America. Finkel RS; Nemours Children's Hospital, Orlando, FL, United States of America. Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America. Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. De Vivo DC; Departments of Neurology, Columbia University Medical Center, New York, NY, United States of America. Mercuri E; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2018 Jun 26; Vol. 13 (6), pp. e0199657. Date of Electronic Publication: 2018 Jun 26 (Print Publication: 2018).
Typ publikacji:
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
Autorzy:
Pane M; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. Coratti G; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. Brogna C; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. MazzoneES; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. Mayhew A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne, United Kingdom. Fanelli L; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. Messina S; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Scutifero M; Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy. Frosini S; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Lanzillotta V; Center of Myology and Neurodegenerative Disorders and Physical and Rehabilitation Medicine Unit, Istituto Giannina Gaslini, Genova, Italy. Colia G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Cavallaro F; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy. Rolle E; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy. De Sanctis R; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. Forcina N; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy. Petillo R; Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy. Barp A; Department of Neurosciences, University of Padua, Padua, Italy. Gardani A; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, Pavia, Italy. Pini A; Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy. Monaco G; Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy. D'Angelo MG; NeuroMuscular Unit IRCCS Eugenio Medea, Bosisio Parini, Italy. Zanin R; Developmental Neurology, Neurological Institute Carlo Besta, Milan, Italy. Vita GL; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy. Bruno C; Center of Myology and Neurodegenerative Disorders and Physical and Rehabilitation Medicine Unit, Istituto Giannina Gaslini, Genova, Italy. Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy. Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Berardinelli A; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, Pavia, Italy. Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Sansone V; Centro Clinico Nemo, Milan, Italy. Albamonte E; Centro Clinico Nemo, Milan, Italy. Baranello G; Developmental Neurology, Neurological Institute Carlo Besta, Milan, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Politano L; Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy. Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy. Mercuri E; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario 'A. Gemelli IRCSS', Università Cattolica del Sacro Cuore, Rome, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2018 Jun 20; Vol. 13 (6), pp. e0199223. Date of Electronic Publication: 2018 Jun 20 (Print Publication: 2018).
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. MazzoneES; 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. .
Pokaż więcej
Źródło:
BMC neurology [BMC Neurol] 2017 Feb 23; Vol. 17 (1), pp. 39. Date of Electronic Publication: 2017 Feb 23.
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.
Autorzy:
Ramsey D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Scoto M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Mayhew A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom. Main M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. MazzoneES; Department of Child Neurology, Catholic University in Rome, Rome, Italy. Montes J; Department of Neurology, Columbia University Medical Center, New York, New York, United States of America. de Sanctis R; Department of Child Neurology, Catholic University in Rome, Rome, Italy. Dunaway Young S; Department of Neurology, Columbia University Medical Center, New York, New York, United States of America. Salazar R; Department of Neurology, Columbia University Medical Center, New York, New York, United States of America. Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America. Pasternak A; Departments of Neurology and Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, Massachusetts, United States of America. Quigley J; Departments of Neurology and Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, Massachusetts, United States of America. Mirek E; Departments of Neurology and Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, Massachusetts, United States of America. Duong T; Department of Neurology, Stanford University, Palo Alto, California, United States of America. Gee R; Lucille Packard Children's Hospital, Stanford University, Palo Alto, California, United States of America. Civitello M; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, Florida, United States of America. Tennekoon G; Department of Neurology, The Children's Hospital of Philadelphia and the Pearlman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, United States of America. Pane M; Department of Child Neurology, Catholic University in Rome, Rome, Italy. Pera MC; Department of Child Neurology, Catholic University in Rome, Rome, Italy. Bushby K; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom. Day J; Department of Neurology, Stanford University, Palo Alto, California, United States of America. Darras BT; Departments of Neurology and Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, Massachusetts, United States of America. De Vivo D; Department of Neurology, Columbia University Medical Center, New York, New York, United States of America. Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, Florida, United States of America. Mercuri E; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Child Neurology, Catholic University in Rome, Rome, Italy. Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2017 Feb 21; Vol. 12 (2), pp. e0172346. Date of Electronic Publication: 2017 Feb 21 (Print Publication: 2017).
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.
Autorzy:
Mercuri E; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Coratti G; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Messina S; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Ricotti V; Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, United Kingdom. Baranello G; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Pera MC; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Albamonte E; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Sivo S; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. MazzoneES; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Arnoldi MT; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy. Fanelli L; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. De Sanctis R; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Romeo DM; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy. Vita GL; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Muntoni F; Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, United Kingdom. Pane M; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2016 Aug 05; Vol. 11 (8), pp. e0160195. Date of Electronic Publication: 2016 Aug 05 (Print Publication: 2016).
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
Autorzy:
MazzoneES; Department of Paediatric Neurology, Catholic University, Rome, Italy. Coratti G; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy. Messina S; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Colia G; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Fanelli L; Department of Paediatric Neurology, Catholic University, Rome, Italy. Berardinelli A; Child Neurology and Psychiatry Unit, 'C. Mondino' Foundation, Pavia, Italy. Gardani A; Child Neurology and Psychiatry Unit, 'C. Mondino' Foundation, Pavia, Italy. Lanzillotta V; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. D'Ambrosio P; Cardiomiologia e genetica medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Petillo R; Cardiomiologia e genetica medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Cavallaro F; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Frosini S; Department of Developmental Neuroscience, Stella Maris Institute, Pisa,Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Bonfiglio S; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. De Sanctis R; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rolle E; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Forcina N; Department of Paediatric Neurology, Catholic University, Rome, Italy. Magri F; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCSS Foudation, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Vita G; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Palermo C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Procopio E; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Arnoldi MT; Developmental Neurology Unit, Istituto Neurologico 'Besta' Milan, Milan, Italy. Baranello G; Developmental Neurology Unit, Istituto Neurologico 'Besta' Milan, Milan, Italy. Mongini T; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa,Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Torrente Y; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCSS Foudation, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Previtali SC; Neuromuscular repair unit, Inspe and division of neuroscience, IRCSS San Raffaele Scientific Institute, Milan, Italy. Bruno C; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. Politano L; Cardiomiologia e genetica medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCSS Foudation, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. D'Angelo MG; Neuromuscular Disorders Unit, Scientific Institute IRCCS E. Medea, 23842, Bosisio Parini, Lecco, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2016 Mar 16; Vol. 11 (3), pp. e0151445. Date of Electronic Publication: 2016 Mar 16 (Print Publication: 2016).
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.
Autorzy:
Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy. MazzoneES; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sivo S; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy. Messina S; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Carlesi A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Vita G; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Fanelli L; Department of Paediatric Neurology, Catholic University, Rome, Italy. Berardinelli A; Child Neurology and Psychiatry Unit, 'Casimiro Mondino' Foundation, Pavia, Italy. Torrente Y; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Lanzillotta V; Neuromuscular Disease Unit, Giannina Gaslini Institute, Genoa, Italy. Viggiano E; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. D Ambrosio P; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Cavallaro F; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Frosini S; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy. Barp A; Department of Neurosciences, University of Padua, Padua, Italy. Bonfiglio S; Child Neurology and Psychiatry Unit, Maggiore Hospital, Bologna, Italy. Scalise R; Department of Paediatric Neurology, Catholic University, Rome, Italy. De Sanctis R; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rolle E; Neuromuscular Center, San Giovanni Battista Hospital, University of Turin, Turin, Italy. Graziano A; Department of Paediatric Neurology, Catholic University, Rome, Italy. Magri F; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Palermo C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rossi F; Developmental Neurology Unit, Neurological Institute Carlo Besta, Milan, Italy. Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Sacchini M; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Arnoldi MT; Developmental Neurology Unit, Neurological Institute Carlo Besta, Milan, Italy. Baranello G; Developmental Neurology Unit, Neurological Institute Carlo Besta, Milan, Italy. Mongini T; Neuromuscular Center, San Giovanni Battista Hospital, University of Turin, Turin, Italy. Pini A; Child Neurology Unit, IRCCS Institute of Neurological Sciences, Bologna, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Previtali S; Department of Neurology, San Raffaele Scientific Institute, Milan, Italy. Bruno C; Neuromuscular Disease Unit, Giannina Gaslini Institute, Genoa, Italy. Politano L; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2014 Oct 01; Vol. 9 (10), pp. e108205. Date of Electronic Publication: 2014 Oct 01 (Print Publication: 2014).
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
Autorzy:
Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy. MazzoneES; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Italy. Messina S; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Vita GL; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Fanelli L; Department of Paediatric Neurology, Catholic University, Rome, Italy. Berardinelli A; Child Neurology and Psychiatry Unit, 'C. Mondino' Foundation, Pavia, Italy. Torrente Y; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Lanzillotta V; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. Viggiano E; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. D'Ambrosio P; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Cavallaro F; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Frosini S; Department of Developmental Neuroscience, Stella Maris Institute, University of Pisa, Pisa, Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Bonfiglio S; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Scalise R; Department of Paediatric Neurology, Catholic University, Rome, Italy. De Sanctis R; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rolle E; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Bianco F; Department of Paediatric Neurology, Catholic University, Rome, Italy. Van der Haawue M; Pediatric Neurology KU Gasthuisberg, Leuven, Belgium. Magri F; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Palermo C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rossi F; Pediatric Neurology KU Gasthuisberg, Leuven, Belgium. Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Alfonsi C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sacchini M; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Arnoldi MT; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy. Baranello G; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy. Mongini T; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, University of Pisa, Pisa, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Previtali SC; Department of Neurology, San Raffaele Scientific Institute, Milan, Italy. Napolitano S; Department of Neurology, San Raffaele Scientific Institute, Milan, Italy. Bruno C; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. Politano L; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Morandi L; Neuromuscular Disease and Immunology Unit, Istituto Neurologico 'Besta', Milan, Italy. Gualandi F; Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy. Ferlini A; Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy. Goemans N; Pediatric Neurology KU Gasthuisberg, Leuven, Belgium. Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2014 Jan 08; Vol. 9 (1), pp. e83400. Date of Electronic Publication: 2014 Jan 08 (Print Publication: 2014).
Typ publikacji:
Clinical Trial; Journal Article; Observational Study; Research Support, Non-U.S. Gov't
Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies