Spinal Muscular Atrophy
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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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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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Neurological Management of Von Hippel-Lindau Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Neurological Findings in Patients with the Fragile-X Syndrome
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