Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Autorzy:
Proud CM; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA. Mercuri E; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany. DeVivoDC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA. Muntoni F; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK. Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Tizzano EF; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain. Desguerre I; Hôpital Necker Enfants Malades, APHP, Paris, France. Quijano-Roy S; Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France. Benguerba K; Novartis Gene Therapies Switzerland GmbH, Rotkreuz, Switzerland. Raju D; Novartis Gene Therapies, Inc, Bannockburn, Illinois, USA. Faulkner E; Novartis Gene Therapies, Inc, Bannockburn, Illinois, USA.; Institute for Precision and Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Genomics, Biotech and Emerging Medical Technology Institute, National Association of Managed Care Physicians, Richmond, Virginia, USA. Servais L; Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Department of Paediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Liège, Belgium.
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function.
Autorzy:
Dunaway Young S; Department of Neurology and Clinical Neuroscience, Stanford University School of Medicine, Palo Alto, CA 94305, USA. Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA. Glanzman AM; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Gee R; Center for Rehabilitation Services, Stanford Children's Health, Stanford University, Palo Alto, CA 94305, USA. Day JW; Department of Neurology and Clinical Neuroscience, Stanford University School of Medicine, Palo Alto, CA 94305, USA. Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA. Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. DeVivoDC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA. Gambino G; Biogen, Maidenhead SL6 4AY, Berkshire, UK. Foster R; Biogen, Maidenhead SL6 4AY, Berkshire, UK. Wong J; Biogen, Cambridge, MA 02142, USA. Garafalo S; Biogen, Cambridge, MA 02142, USA. Berger Z; Biogen, Cambridge, MA 02142, USA.
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.
Autorzy:
Rodriguez-Torres RS; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA. Uher D; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Biobehavioral Sciences, Teachers College, Columbia University, New York, NY 10115, USA. Gay EL; Department of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA. 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. Dunaway Young S; Department of Neurology and Clinical Neurosciences, Stanford University School of Medicine, Palo Alto, CA 94305, USA. Rohwer A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Muni Lofra R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 7RU, UK. DeVivoDC; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA. Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA. Glynn NW; Department of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA. Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
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Źródło:
Journal of clinical medicine [J Clin Med] 2023 May 14; Vol. 12 (10). Date of Electronic Publication: 2023 May 14.
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Autorzy:
Tayebi N; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA. Leon-Ricardo B; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA. McCall K; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA. Mehinovic E; Department of Genetics, Washington University in St Louis, St Louis, Missouri, USA. Engelstad K; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA. Huynh V; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA. Turner TN; Department of Genetics, Washington University in St Louis, St Louis, Missouri, USA. Weisenberg J; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA. Thio LL; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA. Hruz P; Department of Pediatrics, Washington University in St Louis, St Louis, Missouri, USA. Williams RSB; Centre for Biomedical Sciences, Department of Biological Sciences, Royal Holloway University of London, Egham, UK. DeVivoDC; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA. Petit V; Metafora Biosystems, Paris, France. Haller G; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA.; Department of Genetics, Washington University in St Louis, St Louis, Missouri, USA.; Department of Neurological Surgery, Washington University in St Louis, St Louis, Missouri, USA. Gurnett CA; Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA.
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. Mazzone ES; 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. DeVivoDC; 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.
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Autorzy:
Lee MM; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA. McDowell GSV; Neural Regeneration Laboratory, Ottawa Institute of Systems Biology, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Ontario, Canada. DeVivoDC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA. Friedman D; Department of Neurology, NYU Grossman School of Medicine, New York, New York, USA. Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia. Spanou M; Pediatric Neurology Division, 3rd Department of Pediatrics, Attikon University Hospital, Athens, Greece. Dinopoulos A; Pediatric Neurology Division, 3rd Department of Pediatrics, Attikon University Hospital, Athens, Greece. Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA. Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA. Allen-Sharpley M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA. Warman-Chardon J; Department of Medicine (Neurology), Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada. Solyom A; Aceragen, Basel, Switzerland. Levade T; Laboratoire de Biochimie Métabolique, CHU Toulouse, INSERM U1037, Centre de Recherches en Cancérologie de Toulouse, Université Paul Sabatier Toulouse, Toulouse, France. Schuchman EH; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Bennett SAL; Neural Regeneration Laboratory, Ottawa Institute of Systems Biology, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Ontario, Canada. Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada. Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
Visual memory failure presages conversion to MELAS phenotype.
Autorzy:
Leaffer EB; Sergievsky Center & Department of Neurology, Columbia University, New York City, New York, USA.; Department of Psychology, Queens College & The Graduate Center, City University of New York, New York City, New York, USA.; Northeast Cognitive Assessment, Rye Brook, New York, USA. DeVivoDC; Department of Neurology, Columbia University, New York City, New York, USA. Engelstad K; Department of Neurology, Columbia University, New York City, New York, USA. Fryer RH; Department of Neurology, Columbia University, New York City, New York, USA. Gu Y; Taub Institute, Department of Neurology, Department of Epidemiology, Columbia University, New York City, New York, USA. Shungu DC; Department of Radiology, Weill Cornell Medical College, New York City, New York, USA. Hirano M; Department of Neurology, Columbia University, New York City, New York, USA. DiMauro S; Department of Neurology, Columbia University, New York City, New York, USA. Hinton VJ; Sergievsky Center & Department of Neurology, Columbia University, New York City, New York, USA.; Department of Psychology, Queens College & The Graduate Center, City University of New York, New York City, New York, USA.
Scientific rationale for a higher dose of nusinersen.
Autorzy:
Finkel RS; St. Jude Children's Research Hospital, Memphis, Tennessee, USA. Ryan MM; Royal Children's Hospital, Parkville, Victoria, Australia. Pascual Pascual SI; Pediátrica Hospital, Universitario La Paz, Madrid, Spain. Day JW; Stanford University School of Medicine, Stanford, California, USA. Mercuri E; Universitá Cattolica del Sacro Cuore, Rome, Italy. DeVivoDC; Columbia University Irving Medical Center, New York, New York, USA. Foster R; Biogen, Maidenhead, Berkshire, UK. Montes J; Columbia University Irving Medical Center, New York, New York, USA. Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. MacCannell D; Biogen, Cambridge, Massachusetts, USA. Berger Z; Biogen, Cambridge, Massachusetts, USA.
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.
Autorzy:
Logel SN; Division of Pediatric Endocrinology and Diabetes, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA. Connor EL; Division of Pediatric Endocrinology and Diabetes, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA. Hsu DA; Department of Neurology, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA. Fenske RJ; Clinical Nutrition, University of Wisconsin Hospital and Clinics, Madison, Wisconsin, USA. Paloian NJ; Division of Pediatric Nephrology, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA. DeVivoDC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
Autorzy:
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Bovis F; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy. Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Montes J; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, New York, USA. Sansone VA; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy. Dunaway Young S; Department of Neurology, Stanford University, Palo Alto, California, USA. Duong T; Department of Neurology, Stanford University, Palo Alto, California, USA. Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy. Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. Civitello M; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.; St. Jude Children's Research Hospital, Memphis, USA. Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Salmin F; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy. Morando S; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy. De Sanctis R; 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. Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Frongia AL; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. Rohwer A; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom. Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom. DeVivoDC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA. Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Day J; Department of Neurology, Stanford University, Palo Alto, California, USA. Martens W; University of Rochester Medical Center, Rochester, New York, USA. Patanella KA; Department of Neurosciences, Institute of Neurology, Catholic University, Rome, Italy. 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, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.; St. Jude Children's Research Hospital, Memphis, USA. Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.
Autorzy:
Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA. Goodwin AM; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. McDermott MP; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, New York, USA.; Department of Neurology, University of Rochester, Rochester, New York, USA. Uher D; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. Hernandez FM; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. Coutts K; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. Cocchi J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. Hauschildt M; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. Cornett KM; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA. Rao AK; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA. Monani UR; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Center for Motor Neuron Biology & Disease, New York, New York, USA. Ewing Garber C; Department of Biobehavioral Sciences, Teachers College, Columbia University, New York, New York, USA. DeVivoDC; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.; Center for Motor Neuron Biology & Disease, New York, New York, USA.
Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.
Autorzy:
Engelstad K; Department of Neurology, Columbia University Irving Medical Center, New York City, New York, USA. Salazar R; Department of Neurology, Columbia University Irving Medical Center, New York City, New York, USA. Koenigsberger D; Division of Pediatric Gastroenterology, Hepatology and Nutrition, New York Presbyterian Hospital, New York City, New York, USA. Stackowtiz E; Department of Neurology, Columbia University Irving Medical Center, New York City, New York, USA. Brodlie S; Division of Pediatric Gastroenterology, Hepatology and Nutrition, New York Presbyterian Hospital, New York City, New York, USA. Brandabur M; Ultragenyx Pharmaceutical Inc, Novato, California, USA. DeVivoDC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA.
Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy.
Autorzy:
Fragala-Pinkham M; Research Center, Franciscan Children's Hospital, Brighton, MA, USA.; Department of Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, MA, USA. Pasternak A; Department of Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. McDermott MP; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY, USA. Mirek E; Department of Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. Dunaway Young S; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. Salazar R; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. Quigley J; Department of Physical Therapy and Occupational Therapy Services, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Riley SO; Department of Physical and Occupational Therapy, Massachusetts General Hospital, Boston, MA, USA. Chiriboga CA; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA. Tennekoon G; Departments of Neurology, Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Martens WB; Department of Neurology, University of Rochester, Rochester, NY, USA. DeVivoDC; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Longitudinal natural history of type I spinal muscular atrophy: a critical review.
Autorzy:
Mercuri E; Paediatric Neurology, Catholic University, Rome, Italy. .; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. . Lucibello S; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Perulli M; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Coratti G; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. de Sanctis R; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Pera MC; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Pane M; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Montes J; Departments of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, USA.; Department of Neurology, Columbia University Medical Center, New York, USA. deVivoDC; Department of Neurology, Columbia University Medical Center, New York, USA. Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Kolb SJ; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Finkel RS; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 05; Vol. 15 (1), pp. 84. Date of Electronic Publication: 2020 Apr 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
Therapeutic strategies for glucose transporter 1 deficiency syndrome.
Autorzy:
Tang M; Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, 10032.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032. Park SH; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.; Department of Neurology, Columbia University Medical Center, New York, New York, 10032. DeVivoDC; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.; Department of Neurology, Columbia University Medical Center, New York, New York, 10032. Monani UR; Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, 10032.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.; Department of Neurology, Columbia University Medical Center, New York, New York, 10032.
Exploring mTOR inhibition as treatment for mitochondrial disease.
Autorzy:
Sage-Schwaede A; Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032. Engelstad K; Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032. Salazar R; Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032. Curcio A; Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032. Khandji A; Neuroradiology Division, Radiology Department, Columbia University, New York University Irving Medical Center, Milstein Hospital Room 3-101, 177 Fort Washington Avenue, New York, New York, 10032. Garvin JH Jr; Department of Pediatrics, Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Columbia University Irving Medical Center, New York, New York, 10032. DeVivoDC; Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032.
Neurofilament as a potential biomarker for spinal muscular atrophy.
Autorzy:
Darras BT; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts. Crawford TO; Department of Neurology Johns Hopkins University School of Medicine Baltimore Maryland.; Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland. Finkel RS; Division of Neurology Department of Pediatrics Nemours Children's Hospital Orlando Florida. Mercuri E; Department of Paediatric Neurology Catholic University Rome Italy. DeVivoDC; Departments of Neurology and Pediatrics Columbia University Irving Medical Center New York New York. Oskoui M; Department of Neurology and Neurosurgery and Department of Pediatrics McGill University Montreal Quebec Canada. Tizzano EF; 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 Spain. Ryan MM; Royal Children's Hospital Murdoch Children's Research Institute and University of Melbourne Melbourne Australia. Muntoni F; Dubowitz Neuromuscular Centre University College London London United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre London United Kingdom. Zhao G; Biogen Cambridge Massachusetts. Staropoli J; Biogen Cambridge Massachusetts. McCampbell A; Biogen Cambridge Massachusetts. Petrillo M; Biogen Cambridge Massachusetts. Stebbins C; Biogen Cambridge Massachusetts. Fradette S; Biogen Cambridge Massachusetts. Farwell W; Biogen Cambridge Massachusetts. Sumner CJ; Department of Neurology Johns Hopkins University School of Medicine Baltimore Maryland.; Department of Neuroscience Johns Hopkins University School of Medicine Baltimore Maryland.
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. Mazzone ES; 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. DeVivoDC; 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.
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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
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. DeVivoDC; 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.
GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration.
Autorzy:
Winkler EA; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA.; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA. Nishida Y; Center for Neurodegenerative and Vascular Brain Disorders, University of Rochester School of Medicine & Dentistry, Rochester, NY.; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan. Sagare AP; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Rege SV; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Bell RD; Center for Neurodegenerative and Vascular Brain Disorders, University of Rochester School of Medicine & Dentistry, Rochester, NY. Perlmutter D; Center for Neurodegenerative and Vascular Brain Disorders, University of Rochester School of Medicine & Dentistry, Rochester, NY. Sengillo JD; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA.; Center for Neurodegenerative and Vascular Brain Disorders, University of Rochester School of Medicine & Dentistry, Rochester, NY. Hillman S; Center for Neurodegenerative and Vascular Brain Disorders, University of Rochester School of Medicine & Dentistry, Rochester, NY. Kong P; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Nelson AR; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Sullivan JS; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Zhao Z; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Meiselman HJ; Departrment of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, CA. Wendy RB; Departrment of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, CA. Soto J; Fraternal Order of Eagles Diabetes Research Center and Division of Endocrinology and Metabolism, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. Abel ED; Fraternal Order of Eagles Diabetes Research Center and Division of Endocrinology and Metabolism, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. Makshanoff J; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. Zuniga E; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA. DeVivoDC; Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University New York, NY, USA. Zlokovic BV; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA.; Departrment of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, CA.
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Źródło:
Nature neuroscience [Nat Neurosci] 2015 Apr; Vol. 18 (4), pp. 521-530. Date of Electronic Publication: 2015 Mar 02.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
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