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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Neuroimaging Features of Biotinidase Deficiency
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Genetics of Cluster Headache Takes a Leap
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Autosomal Recessive Cerebellar Ataxias
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Tuberous Sclerosis
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Sensorineural Hearing Loss in Children
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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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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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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