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Spinal Muscular Atrophy A Timely Review
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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A 6-Year-Old Girl with Progressive Toe Walking
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Neurofibromatosis Type 2
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Spinocerebellar Ataxias and Ataxins
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
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Detecting Susceptibility to Malignant Hyperthermia
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Cockayne Syndrome: Review of 140 Cases
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Fucosidosis Revisited:A Review of 77 Patients
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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