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Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Among authors: giese a. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S, Rossi M, Mammana A, Appleby BS, Barria MA, Calì I, Gambetti P, Gelpi E, Giese A, Ghetti B, Herms J, Ladogana A, Mikol J, Pal S, Ritchie DL, Ruf V, Windl O, Capellari S, Parchi P. Baiardi S, et al. Among authors: giese a. Acta Neuropathol. 2021 Oct;142(4):707-728. doi: 10.1007/s00401-021-02350-y. Epub 2021 Jul 29. Acta Neuropathol. 2021. PMID: 34324063 Free PMC article.
Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA.
Parchi P, de Boni L, Saverioni D, Cohen ML, Ferrer I, Gambetti P, Gelpi E, Giaccone G, Hauw JJ, Höftberger R, Ironside JW, Jansen C, Kovacs GG, Rozemuller A, Seilhean D, Tagliavini F, Giese A, Kretzschmar HA. Parchi P, et al. Among authors: giese a. Acta Neuropathol. 2012 Oct;124(4):517-29. doi: 10.1007/s00401-012-1002-8. Epub 2012 Jun 30. Acta Neuropathol. 2012. PMID: 22744790 Free PMC article.
Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease.
Baiardi S, Redaelli V, Ripellino P, Rossi M, Franceschini A, Moggio M, Sola P, Ladogana A, Fociani P, Magherini A, Capellari S, Giese A, Caughey B, Caroppo P, Parchi P. Baiardi S, et al. Among authors: giese a. J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):424-427. doi: 10.1136/jnnp-2018-319221. Epub 2018 Oct 24. J Neurol Neurosurg Psychiatry. 2019. PMID: 30355606
Typing prion isoforms.
Parchi P, Capellari S, Chen SG, Petersen RB, Gambetti P, Kopp N, Brown P, Kitamoto T, Tateishi J, Giese A, Kretzschmar H. Parchi P, et al. Among authors: giese a. Nature. 1997 Mar 20;386(6622):232-4. doi: 10.1038/386232a0. Nature. 1997. PMID: 9069279 No abstract available.
669 results