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Spinal Muscular Atrophy
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Molybdenum Cofactor Deficiency
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A 52-year-old Woman with Progressive Proximal Weakness
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Niemann-Pick Disease Type C from Bench to Bedside
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Causal Heterogeneity in Isolated Lissencephaly
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