GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Spinal Muscular Atrophy
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Genetic Localization of the Familial Adult Myoclonic Epilepsy (FAME) Gene to Chromosome 8q24
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Creutzfeldt-Jakob Disease in a Young Woman
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Acid Maltase Deficiency
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Neuroimaging Features of Biotinidase Deficiency
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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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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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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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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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Parkinson Disease Subtypes
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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An unusual cause of stroke and hypoxia
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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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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Diagnosis and New Treatments in Muscular Dystrophies
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Amyotrophic Lateral Sclerosis
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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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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
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