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A 42-year-old man with unilateral leg weakness
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Familial Amyotrophic Lateral Sclerosis
Muscle Nerve 25:135-159, Hand,C.K. &Rouleau,G.A., 2002
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998
Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
Neurol 48:55-57, Juneja,T.,et al, 1997
Familial Nature and Continuing Morbidity of the Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex of Guam
Neurol 49:400-409, McGeer,P.L.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Superoxide Dismutase and ALS
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Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
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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Parental Sex Effect in Familial Amyotrophic Lateral Sclerosis
Neurol 41:1292-1294, Leone,M., 1991
Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Familial Adult Motor Neuron Disease:Amyotrophic Lateral Sclerosis
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