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Spinal Muscular Atrophy
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Adrenoleukodystrophy
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Niemann-Pick Disease Type C from Bench to Bedside
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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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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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