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Two Cases of Van Buchem's Disease
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Ears of the Lynx Magnetic Resonance Imaging Sign
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A Neonate with Micrognathia and Hypotonia
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Neurological Management of Von Hippel-Lindau Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Mitochondrial DNA Polymerase-y and Human Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Niemann-Pick Disease Type C: Two Cases and an Update
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