Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000
MR Findings of Werdnig-Hoffmann Disease in Two Infants
AJNR 19:550-552, Hsu,C.,et al, 1998
Lymphoproliferative Disorders and Motor Neuron Disease:An Update
Neurol 48:1671-1678, Gordon,P.H.,et al, 1997
Neurogenic Muscle Hypertrophy
Muscle & Nerve 19:811-818996., Gutmann,L., 1996
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996
Motor Neuron Disease Presenting as Acute Respiratory Failure:A Clinical and Pathological Study
JNNP 60:455-458, Chen,R.,et al, 1996
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
Lancet 346:741-742, Brahe,C.,et al, 1995
Clinicopath Conf
Progressive Muscular Atrophy, Case 36-1995, NEJM 333:1406-1412995., , 1995
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
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
Clinicopath Conf
Motor Neuron Disease, Progressive-Muscular-Atrophy Type, Case 43-1992, NEJM 327:1298-130592., , 1992
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990
Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
Springer-Verlag, NY, p289988., Swash,M.&Schwartz,M.S., 1988
Clinincopath Conf
Progressive Muscular Atrophy & Diabetic Neuromuscular Disease, Case 21-1987, NEJM 316:1326-13357., , 1987
Location of the Gene for X-Linked Spinal Muscular Atrophy
Neurol 36:1595-1598, Fischbeck,K.H.,et al, 1986
Benign Focal Amyotrophy
Arch Neurol 41:678-679, Riggs,J.E.,et al, 1984
Benign Familial Spinal Muscular Atrophy With Hypertrophy of the Calves
Arch Neurol 39:657-660, D'Alessandro,R.,et al, 1982
Preservation of the Phrenic Motorneurons in Werdnig-Hoffman Disease
Ann Neurol 9:506-510, Kuzuhara,S.,et al, 1981
Diaphragmatic Paralysis in Motor Neuron Disease
Neurol 28:18, Parhad,I.M.,et al, 1978
Sparing of the Onufrowicz Nucleus in Sacral Anterior Horn Lesions
Ann Neurol 4:245-249, Iwata,M.,et al, 1978
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Infantile Spinal Muscular Atrophy
Arch Neurol 25:276, Wilkins,R.,et al, 1971
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
Brain 92:9, Munsat,T.,et al, 1969
Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:551, Meadows,J.C.,et al, 1969
Neurogenic Muscular Atrophy Simulating Facioscapulohumeral Muscular Dystrophy
J Neurol Sci 9:389, Furukawa,T.,et al, 1969
Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
The New Physic 263, 1967, Oct., Boshes,L., 1967