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autosomal dominant prion proteindisease相关文献:
Fatal Familial Insomnia.
Khan Z, Sankari A, Bollu PC.
2024 Feb 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:29489284
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Abeta, tau, immunity and lipid processing.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Fr…
Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.
PMID:30820047
Prion disease.
Takada LT, Kim MO, Metcalf S, Gala II, Geschwind MD.
Handb Clin Neurol. 2018;148:441-464. doi: 10.1016/B978-0-444-64076-5.00029-6.
PMID:29478593
Genetic Prion Disease.
Zerr I, Schmitz M.
2003 Mar 27 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301407
Hypothesis: functional age and onset of autosomal dominant genetic prion disease.
Bordonaro M.
Theory Biosci. 2023 Jun;142(2):143-150. doi: 10.1007/s12064-023-00389-x. Epub 2023 Apr 5.
PMID:37017882
Gerstmann-Straussler-Scheinker disease.
Liberski PP.
Adv Exp Med Biol. 2012;724:128-37. doi: 10.1007/978-1-4614-0653-2_10.
PMID:22411239
Genetics of Synucleinopathies.
Nussbaum RL.
Cold Spring Harb Perspect Med. 2018 Jun 1;8(6):a024109. doi: 10.1101/cshperspect.a024109.
PMID:28213435
Genetic Creutzfeldt-Jakob disease.
Ladogana A, Kovacs GG.
Handb Clin Neurol. 2018;153:219-242. doi: 10.1016/B978-0-444-63945-5.00013-1.
PMID:29887139
The prion diseases.
Brown K, Mastrianni JA.
J Geriatr Psychiatry Neurol. 2010 Dec;23(4):277-98. doi: 10.1177/0891988710383576. Epub 2010 Oct 11.
PMID:20938044
Genetic counseling for prion disease: Updates and best practices.
Goldman JS, Vallabh SM.
Genet Med. 2022 Oct;24(10):1993-2003. doi: 10.1016/j.gim.2022.06.003. Epub 2022 Jul 12.
PMID:35819418
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