Spinal Muscular Atrophy
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Myotonic Dystrophy
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A Clinical Study of Noonan Syndrome
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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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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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
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A 10-year-old boy with Bilateral Vision Loss
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Neurological Management of Von Hippel-Lindau Disease
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Molybdenum Cofactor Deficiency
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Epilepsy in Pregnancy
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The Tuberous Sclerosis Complex
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Sensorineural Hearing Loss in Children
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Prader-Willi and Angelman Syndromes
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The Muscular Dystrophies
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Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Causal Heterogeneity in Isolated Lissencephaly
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurological Findings in Patients with the Fragile-X Syndrome
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Fragile X Chromosome & X-Linked Mental Retardation
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