A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Amyotrophic Lateral Sclerosis
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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Ears of the Lynx Magnetic Resonance Imaging Sign
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A 54-year-old man with Dyspnea and Muscle Weakness
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A 42-year-old man with unilateral leg weakness
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Genetics of Familial Amyotrophic Lateral Sclerosis
Neurol 70:144-152, Valdmanis,P.N. &Rouleau,G.A., 2008
Spinal Muscular Atrophy
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Familial Amyotrophic Lateral Sclerosis
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Jaw Drop in Kennedy's Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Amyotrophic Lateral Sclerosis
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Clinical and Genetic Aspects of Distal Myopathies
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
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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
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Superoxide Dismutase and ALS
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Monomelic Amyotrophy
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Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
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Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
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
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Familial Adult Motor Neuron Disease:Amyotrophic Lateral Sclerosis
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Phosphorylase Deficiency
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The Oculopharyngeal Syndrome
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Complex Ataxia
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