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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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The Tuberous Sclerosis Complex
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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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Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
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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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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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The DNA Laboratory and Neurolgoical Practice
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Unstable DNA Sequence in Myotonic Dystrophy
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Lisch Nodules in Neurofibromatosis Type I
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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MELAS Syndrome Involving a Mother & Two Children
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Epidemiology of Motor-Neuron Diseases
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Niemann-Pick Type C Disease
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