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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: eigenbrod s. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Report about four novel mutations in the prion protein gene.
Schelzke G, Stoeck K, Eigenbrod S, Grasbon-Frodl E, Raddatz LM, Ponto C, Kretzschmar HA, Zerr I. Schelzke G, et al. Among authors: eigenbrod s. Dement Geriatr Cogn Disord. 2013;35(3-4):229-37. doi: 10.1159/000345991. Epub 2013 Mar 5. Dement Geriatr Cogn Disord. 2013. PMID: 23467330 Free article.
Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene.
Breithaupt M, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I. Breithaupt M, et al. Among authors: eigenbrod s. Alzheimer Dis Assoc Disord. 2013 Jan-Mar;27(1):87-90. doi: 10.1097/WAD.0b013e31824d578a. Alzheimer Dis Assoc Disord. 2013. PMID: 22407223
MRI and clinical syndrome in dura mater-related Creutzfeldt-Jakob disease.
Meissner B, Kallenberg K, Sanchez-Juan P, Ramljak S, Krasnianski A, Heinemann U, Eigenbrod S, Gelpi E, Barsic B, Kretzschmar HA, Schulz-Schaeffer WJ, Knauth M, Zerr I. Meissner B, et al. Among authors: eigenbrod s. J Neurol. 2009 Mar;256(3):355-63. doi: 10.1007/s00415-009-0026-z. Epub 2009 Jan 23. J Neurol. 2009. PMID: 19159063 Free article.
44 results