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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Neurological Management of Von Hippel-Lindau Disease
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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The Muscular Dystrophies
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Niemann-Pick Disease Type C from Bench to Bedside
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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A Clinical Study of Noonan Syndrome
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Preventive Screening for Fragile X Syndrome
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Prenatal Diagnosis of Cockayne's Syndrome
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