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Spinal Muscular Atrophy
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Amyotrophic Lateral Sclerosis
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A 53-year-old Woman with Lower Extremity Paresthesias
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
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Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
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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
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Hereditary Motor and Sensory Neuropathies
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Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
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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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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Cardiac Dysfunction in Neuromuscular Diseases
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Familial Nature and Continuing Morbidity of the Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex of Guam
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Myasthenic Symptoms in Patients with Mitochondrial Myopathies
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
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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
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990
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J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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