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Spinal Muscular Atrophy A Timely Review
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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Natural History in Proximal Spinal Muscular Atrophy
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Genetics and Physiology of the Myotonic Muscle Disorders
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