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Diagnosis and New Treatments in Muscular Dystrophies
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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A Variant in the HS1-BP3 Gene is Associated with Familial Essential Tremor
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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The Hereditary Spastic Paraplegias
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Clinical and Genetic Aspects of Distal Myopathies
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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