A 60-Year-Old Man with Weakness and Gait Dysfunction
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Neuroimaging Changes in Menkes Disease, Part 1
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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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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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis
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Distal Hereditary Upper Limb Muscular Atrophy
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Hereditary Form of Parkinsonism-Dementia
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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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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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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
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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
Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Mendelian Etiologies of Stroke
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Multiple Sclerosis & Systemic Lupus Erythematosus, Occurrence in Two Generations of the Same Family
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Location of the Gene for X-Linked Spinal Muscular Atrophy
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Clinicopathological Conference
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Familial Occurrence of Amyotrophic Lateral Sclerosis, Parkinsonism, & Dementia
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Benign Familial Spinal Muscular Atrophy With Hypertrophy of the Calves
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Progressive Pontobulbar Palsy With Deafness
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Systemic Membrane Defect in the Proximal Muscular Dystrophies
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Epidemiology of Motor-Neuron Diseases
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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