Clinical aspects of common genetic Creutzfeldt-Jakob disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Epidemiology
Link
http://www.springerlink.com/index/pdf/10.1007/s10654-012-9660-3
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2. Kovacs GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, van Duijn C, Collins SJ, Boyd A, Giulivi A, Coulthart M, Delasnerie-Laupretre N, Brandel JP, Zerr I, Kretzschmar HA, de Pedro-Cuesta J, Calero-Lara M, Glatzel M, Aguzzi A, Bishop M, Knight R, Belay G, Will R, Mitrova E. Genetic prion disease: the EUROCJD experience. Hum Genet. 2005;118:166–74.
3. Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG. Ancestral origins and worldwide distribution of the PRNP 200 K mutation causing familial Creutzfeldt-Jakob disease. Am J Hum Genet. 1999;64:1063–70.
4. Mitrova E, Belay G. Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. Acta Virol. 2002;46:31–9.
5. Ladogana A, Puopolo M, Poleggi A, Almonti S, Mellina V, Equestre M, Pocchiari M. High incidence of genetic human transmissible spongiform encephalopathies in Italy. Neurology. 2005;64:1592–7.
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1. Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt–Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene;International Journal of Molecular Sciences;2022-12-02
2. Creutzfeldt-Jakob disease: literature review based on three case reports;Dementia & Neuropsychologia;2022
3. Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families;Clinical Neurology and Neurosurgery;2021-03
4. A case report of genetic prion disease with two different PRNP variants;Molecular Genetics & Genomic Medicine;2020-01-17
5. Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report;Prion;2019-01-01
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