GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Neuroimaging Features of Biotinidase Deficiency
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Aicardi-Gouti�res Syndrome
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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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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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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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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Genetics of Cluster Headache Takes a Leap
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Wilson Disease
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Amyotrophic Lateral Sclerosis
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Autosomal Recessive Cerebellar Ataxias
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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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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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Alzheimer's Disease and Parkinson's Disease
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Hereditary Spastic Paraparesis: A Review of New Developments
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Ion Channel Diseases:Episodic Disorders of the Nervous System
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
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Evidence for an Alzheimer Disease Susceptability Locus on Chromosome 12 and for Further Locus Heterogeneity
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