A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 6-Year-Old Girl with Progressive Toe Walking
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More Than a Little Unsteady
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Complex Ataxia
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Short Stature, Imperforate Anus, and Polydactyly
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Diagnosis and New Treatments in Muscular Dystrophies
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Cockayne Syndrome: Review of 140 Cases
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
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Rett Syndrome:Natural History and Management
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Central Core Disease, Clinical Features in 13 Patients
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