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Chromosome 19 Single-Locus & Multilocus Haplotype Assoc with MS, Evid of New Suscept Locus in Caucasian & Chinese Pts
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Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Neuroimaging Features of Biotinidase Deficiency
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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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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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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A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Genetics of Familial Amyotrophic Lateral Sclerosis
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A 23-Year-Old Man With Seizures and Visual Deficit
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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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Sensorineural Hearing Loss in Children
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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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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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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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Natural History in Proximal Spinal Muscular Atrophy
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Hereditary Hemorrhagic Telangiectasia
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