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Neuroimaging Features of Biotinidase Deficiency
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Recessive Ataxia With Ocular Apraxia
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Wilson Disease:Clinical Presentation, Treatment, and Survival
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Primary Lateral Sclerosis, A Clinical Diagnosis Reemerges
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Clinical Insights Into CASPR1 and CASPR1/Contactin1 Com-lex Autoimmune Nodopathies
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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Infantile Epileptic Spasms Syndrome (West Syndrome)
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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Niemann-Pick Disease Type C
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Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
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Powassan Virus Encephalitis: A Tertiary Center Experience
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Current and Emerging Issues in Wilsons Disease
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Spinal Muscular Atrophy
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