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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Neurological Findings in Patients with the Fragile-X Syndrome
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Molybdenum Cofactor Deficiency
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The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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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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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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Niemann-Pick Disease Type C from Bench to Bedside
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Apolipoprotein E Allele E4, Dementia, and Cognitive Decline in a Population Sample
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Apoliprprotein E E4 Allele & the Lifetime Risk of Alzheimer's Disease:What Physicians Know, & What They Should Know
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Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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A Clinical Study of Noonan Syndrome
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Preventive Screening for Fragile X Syndrome
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Recognising & Preventing Duchenne Muscular Dystrophy
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Fragile X Chromosome & X-Linked Mental Retardation
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