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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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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Duchenne Muscular Dystrophy
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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The Autosomal Recessive Cerebellar Ataxias
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Genetics of Alzheimer Disease, Current Status and Future Prospects
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Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
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Metachromatic Leukodystrophy Manifesting as a Schizophrenic Disorder:Computed Tomographic Correlation
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Parental Transmission in Huntington's Disease
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Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
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Genetic Counseling in Retinitis Pigmentosa
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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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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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