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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Sydenham Chorea
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Prader-Willi and Angelman Syndromes
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Causal Heterogeneity in Isolated Lissencephaly
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Fucosidosis Revisited:A Review of 77 Patients
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The Neuropathy of Acute Intermittent Porphyria
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