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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Neuroimaging Features of Biotinidase Deficiency
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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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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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Dopa-Responsive Dystonia Revisited
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A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
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Genetic Aspects of Alzheimer Disease
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Tuberous Sclerosis
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Parkinsons Disease and Genetics
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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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Sensorineural Hearing Loss in Children
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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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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Clinical and Genetic Aspects of Distal Myopathies
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Complete Genomic Screen in Parkinson Disease
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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The Genetics of Alzheimer Disease, Current Status and Future Prospects
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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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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
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Creutzfeldt-Jakob Disease in a Young Woman
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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