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Conjugal Multiple Sclerosis:A Clinical and Laboratory Study
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Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
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Narcolspey
NEJM 323:389-394, Aldrich,M.S., 1990
Risk Factors for Multiple Sclerosis:Race or Place? Editorial
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Familial Patterns of Narcolepsy
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Genetic Factors in Myasthenia Gravis:A Family Study
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Narcolepsy & Immunity
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The Genetics of Susceptibility to Multiple Sclerosis
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A Family with Hereditary Ataxia:HLA Typing
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Spinocerebellar Ataxia & HLA Linkage:Risk Prediction by HLA Typing
NEJM 296:1138, Jackson,J.F.,et al, 1977
Cause of Weakness in Myasthenia Gravis
NEJM 294:722, Grob,D., 1976
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Somatic Mutations in Cerebral Cortical Malformations
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Fabry Disease
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Genomewide Association Studies of Stroke
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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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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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Coma in a Young Anorexic Woman
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Complete Genomic Screen in Parkinson Disease
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The Brain Code in Health and Disease
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Ion Channel Diseases:Episodic Disorders of the Nervous System
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Genetic Diagnosis of Gaucher's Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Neurologic Crises in Hereditary Tyrosinemia
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