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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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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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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Predictive Testing for Huntington's Disease, Progress and Problems
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Genetic Linkage in Neurologic Diseases
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A Genetic Marker for Huntington's Chorea
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Neuroimaging Features of Biotinidase Deficiency
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Sturge-Weber Syndrome
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Wilson Disease
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Dopa-Responsive Dystonia Revisited
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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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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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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The Tuberous Sclerosis Complex
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Sensorineural Hearing Loss in Children
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Clinical and Genetic Aspects of Distal Myopathies
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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