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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Neurologic Manifestations of von Hippel-Lindau Disease
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Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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Primary Brain Tumours in Adults
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
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Hereditary Hemorrhagic Telangiectasia
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Amyotrophic Lateral Sclerosis
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Recurrent Cerebral Ischemia During Pregnancies
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A Teenager with Persistent Headache
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Recurrent Epistaxis in an Adolescent
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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Red Papules on the Tongue of a Patient with Hemiparesis
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Spinal Muscular Atrophy
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