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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Neurological Management of Von Hippel-Lindau Disease
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Molybdenum Cofactor Deficiency
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
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Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Niemann-Pick Disease Type C from Bench to Bedside
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Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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