Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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