Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Neurological Management of Von Hippel-Lindau Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Parkin Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Genes Associated With Adult Cerebral Venous Thrombosis
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An unusual cause of stroke and hypoxia
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Genomewide Association Studies of Stroke
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Unusual Variants of Alexander's Disease
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
New Players in the Genetics of Stroke
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Reduced Basal Ganglia Volume Associated with the Gene for Huntington's Disease in Asymptomatic at-Risk Persons
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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