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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Dopamine-Responsive Dystonia
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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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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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Wilson Disease
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Angelman Syndrome: Clinical Profile
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurodegeneration with Brain Iron Accumulation
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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The Epilepsy of Trisomy 9p
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The Inherited Ataxias and the New Genetics
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Spinocerebellar Ataxias and Ataxins
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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