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The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1713 - 1722
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 02/2019, Volume 54, Issue 2, pp. 179 - 185
Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6... 
health outcomes | gene replacement | AVXS‐101 | gene therapy | spinal muscular atrophy | quality of life | SMA1 | AVXS-101 | DIAGNOSIS | MANAGEMENT | MODEL | CARE | CHILDREN | DELIVERY | RESPIRATORY SYSTEM | PEDIATRICS | QUALITY-OF-LIFE | NONINVASIVE VENTILATION | Hospitalization | Original | Pcd, Pig, Nehi, Child, and Rare Diseases
Journal Article
Molecular Therapy, ISSN 1525-0016, 01/2015, Volume 23, Issue 1, pp. 192 - 201
Journal Article
Molecular Therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 870 - 879
Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more... 
gene therapy | adeno-associated virus | Follistatin | 6-min walk test | 6-min walk distance | sporadic inclusion body myositis | IMMUNOLOCALIZATION | MEDICINE, RESEARCH & EXPERIMENTAL | POLYMYOSITIS | TGF-BETA SUPERFAMILY | MUSCLE MASS | PILOT TRIAL | MYOPATHIES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | MITOCHONDRIAL-DNA DELETIONS | EXPRESSION | CELL | Dependovirus - genetics | AMP-Activated Protein Kinases - metabolism | Follow-Up Studies | Genetic Vectors - administration & dosage | TOR Serine-Threonine Kinases - metabolism | Humans | Middle Aged | Follistatin - genetics | Genetic Vectors - adverse effects | Male | Muscle, Skeletal - metabolism | Recovery of Function | Myositis, Inclusion Body - diagnosis | Myositis, Inclusion Body - therapy | Dependovirus - immunology | Treatment Outcome | Gene Dosage | Myositis, Inclusion Body - genetics | Genetic Vectors - genetics | Animals | Biopsy | Muscle, Skeletal - physiopathology | Biomarkers | Aged | Mice | Muscle, Skeletal - pathology | Walk Test | Genetic Therapy - methods | Standard scores | Dermatomyositis | Clinical trials | Becker's muscular dystrophy | Inflammation | Kinases | Muscular dystrophy | Studies | Ankle | Polymyositis | Follistatin gene | Fibrosis | Quadriceps muscle | Myositis | Dysphagia | Dystrophy | Gene therapy | Age | Myopathy | Index Medicus | Original
Journal Article
Journal Article
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 10/2015, Volume 61, Issue 7, pp. 1092 - 1098
Journal Article
Developmental medicine and child neurology, ISSN 0012-1622, 04/2019
To evaluate the utility of Ability Captured Through Interactive Video Evaluation (ACTIVE) scaled scores to quantify meaningful change in individuals with... 
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 03/2019, Volume 73, Issue 9, pp. 1455 - 1455
Journal Article
Pediatric Neurology, ISSN 0887-8994, 09/2019, Volume 98, pp. 39 - 45
This study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe... 
AVXS-101 | Gene replacement therapy | Onasemnogene abeparvovec | CHOP-INTEND | Spinal muscular atrophy | Genetic research | Infants | Analysis | Genes | Index Medicus
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 01/2019, Volume 6, Issue 3, p. 307
Background: Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene... 
Cell survival | Action potential | Infants | Infant mortality | Gene therapy | Age | Natural history | Spinal muscular atrophy
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2015, Volume 2, Issue 3, pp. 185 - 192
Follistatin is a ubiquitous secretory propeptide that functions as a potent inhibitor of the myostatin pathway, resulting in an increase in skeletal muscle... 
Becker muscular dystrophy | Myostatin | Follistatin | Gene therapy | FS344
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2015, Volume 3, Issue 2, pp. 92 - 98
Limb‐girdle muscular dystrophy type 2C ( LGMD 2C) is considered one of the severe forms of childhood‐onset muscular dystrophy. The geographical distribution of... 
gamma‐sarcoglycan | Puerto Rico | Founder mutation | SGCG | LGMD2C | gamma-sarcoglycan | GENETICS & HEREDITY | Muscular dystrophy | Hispanics | Mutation | Clinical Report
Journal Article