Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Neuroimaging Features of Biotinidase Deficiency
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Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Somatic Mutations in Cerebral Cortical Malformations
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Extending the KCNQ2 encephalopathy Spectrum
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Malignant Hyperthermia, Update on Susceptibility Testing
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Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
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