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Spinal Muscular Atrophy
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Nusinersen in Adult Patients with Spinal Muscular Atrophy
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Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
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Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Spinal Muscular Atrophy A Timely Review
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The Floppy Infant: Evaluation of Hypotonia
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Spinal Muscular Atrophy
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Molecular Basis of the Neurodegenerative Disorders
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Neurogenic Muscle Hypertrophy
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Motor Neuron Disease Presenting as Acute Respiratory Failure:A Clinical and Pathological Study
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Hypoglycaemia in Spinal Muscular Atrophy
Lancet 346:609-610, Bruce,A.K.,et al, 1995
Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Clinicopath Conf
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Intestinal Pseudo-Obstruction in Adult Spinal Muscular Atrophy
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Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Spinal Muscular Atrophies
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Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
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DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
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Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
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Location of the Gene for X-Linked Spinal Muscular Atrophy
Neurol 36:1595-1598, Fischbeck,K.H.,et al, 1986
Use of the ECG in the Diagnosis of Childhood Spinal Muscular Atrophy
Arch Neurol 36:317-318, Russman,B.S.,et al, 1979
Distal Chronic Spinal Muscular Atrophy Involving the Hands
JNNP 41:653-658, O'Sullivan,D.J.,et al, 1978
Infantile Spinal Muscular Atrophy
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Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:527, Meadows,J.C.,et al, 1969
Neurogenic Muscular Atrophy of Infancy with Prolonged Survival
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Chronic Spinal Muscular Atrophy in Adults
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