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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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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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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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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Analysis of the Prion Protein Gene in Thalamic Dementia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
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Clinicopathological Conference
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Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
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