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• An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.

  Masullo C, Bizzarro A, Guglielmi V, Iannaccone E, Minicuci G, Vita MG, Capellari S, Parchi P, Servidei S. Masullo C, et al. Neurol Sci. 2010 Dec;31(6):837-9. doi: 10.1007/s10072-010-0388-0. Epub 2010 Aug 21. Neurol Sci. 2010. PMID: 20730466
• Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

  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. Lee HS, et al. Am J Hum Genet. 1999 Apr;64(4):1063-70. doi: 10.1086/302340. Am J Hum Genet. 1999. PMID: 10090891 Free PMC article.
• Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

  Mancuso M, Siciliano G, Capellari S, Orsucci D, Moretti P, Di Fede G, Suardi S, Strammiello R, Parchi P, Tagliavini F, Murri L. Mancuso M, et al. Neurol Sci. 2009 Oct;30(5):417-20. doi: 10.1007/s10072-009-0118-7. Epub 2009 Jul 14. Neurol Sci. 2009. PMID: 19597763
• National Creutzfeldt-Jakob disease research biobank, a novel approach to the establishment of the scientific platform: collaboration between patient advocacy group, scientists, regulators and physicians.

  Anane A, Pasternak D, Reisner SA, Novack V. Anane A, et al. Orphanet J Rare Dis. 2025 Apr 10;20(1):170. doi: 10.1186/s13023-025-03703-6. Orphanet J Rare Dis. 2025. PMID: 40211302 Free PMC article.
• Genetic prion disease: the EUROCJD experience.

  Kovács 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; EUROCJD. Kovács GG, et al. Hum Genet. 2005 Nov;118(2):166-74. doi: 10.1007/s00439-005-0020-1. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16187142