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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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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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Neuroimaging Features of Biotinidase Deficiency
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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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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Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Clinical Spectrum of CADASIL:A Study of 7 Families
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
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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