Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Spinal Muscular Atrophy
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A 52-year-old Woman with Progressive Proximal Weakness
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Molybdenum Cofactor Deficiency
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Genetic Aspects of Alzheimer Disease
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Adrenoleukodystrophy
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Friedreich Ataxia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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
JAMA 276:561-564, Schiffmann,R., 1996
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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
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Myotonic Dystrophy
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Dystrophinopathy in Isolated Cases of Myopathy in Females
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A Clinical Study of Noonan Syndrome
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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