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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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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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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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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Spinocerebellar Ataxias and Ataxins
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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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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Genetics of Cluster Headache Takes a Leap
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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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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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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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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Parkinson Disease Subtypes
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