Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Mitochondrial DNA and Disease
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Advances in Molecular Analysis of Fragile X Syndrome
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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Causal Heterogeneity in Isolated Lissencephaly
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
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Prion Dementia Without Characteristic Pathology
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