Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinical Manifestations of the anti-IgLON5 Disease
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Precipitous Deterioration of Motor Function, Cognition, and Behavior
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Paramedian Pontine Infarction
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Joubert Syndrome:A Clinico-Radiological Study
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Encephalomyelopathy of Leigh
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