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Neuroimaging Features of Biotinidase Deficiency
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Degenerative Diseases of the Nervous System, Parkinson Disease
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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