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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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A Clinical Study of Noonan Syndrome
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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