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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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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Spinal Muscular Atrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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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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The Floppy Infant: Evaluation of Hypotonia
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Amyotrophic Lateral Sclerosis
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Glycogen-Storage Disease Type II
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Amyotrophic Lateral Sclerosis
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Distal Hereditary Upper Limb Muscular Atrophy
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Tibial Muscular Dystrophy
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
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Spinal Muscular Atrophies
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Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
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Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
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DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
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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
Neurol 37:446-450, Larsen,R.,et al, 1987
Location of the Gene for X-Linked Spinal Muscular Atrophy
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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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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Epidemiology of Motor-Neuron Diseases
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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The Spectrum of Fragile X Disorders
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Melas Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Genome Sequencing in the NICU and PICU is Here to Stay
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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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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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