N-Acetylcysteine Therapy for Unverricht-Lundborg 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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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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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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Neurological Management of Von Hippel-Lindau Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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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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Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
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Genetic Localization of the Familial Adult Myoclonic Epilepsy (FAME) Gene to Chromosome 8q24
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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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Prader-Willi and Angelman Syndromes
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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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Creutzfeldt-Jakob Disease in a Young Woman
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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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Familial Alzheimer's Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
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