Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-020-00618-1.pdf
Reference26 articles.
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3. Ladogana A. and Gabor G. Kovacs (2018) Handbook of clinical neurology, Vol. 153 (3rd series) Human Prion Diseases. M. Pocchiari and J. Manson, Editors
4. Ladogana A, Puopolo M, Poleggi A, Almonti S, Mellina V, Equestre M, Pocchiari M (2005) High incidence of genetic human transmissible spongiform encephalopathies in Italy. Neurology 64:1592–1597
5. Minikel EV, Sonia M, Vallabh SM, Lek M et al (2016) Quantifying penetrance in a dominant disease gene using large population control cohorts. Sci Transl Med 8(322):322ra9. https://doi.org/10.1126/scitranslmed Aad 5169
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1. Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges;Archives of Pharmacal Research;2023-06
2. Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene;International Journal of Molecular Sciences;2022-09-06
3. Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification;Acta Neuropathologica;2021-07-29
4. The importance of ongoing international surveillance for Creutzfeldt–Jakob disease;Nature Reviews Neurology;2021-05-10
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