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182 results

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Page 1
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Jones E, Hummerich H, Viré E, Uphill J, Dimitriadis A, Speedy H, Campbell T, Norsworthy P, Quinn L, Whitfield J, Linehan J, Jaunmuktane Z, Brandner S, Jat P, Nihat A, How Mok T, Ahmed P, Collins S, Stehmann C, Sarros S, Kovacs GG, Geschwind MD, Golubjatnikov A, Frontzek K, Budka H, Aguzzi A, Karamujić-Čomić H, van der Lee SJ, Ibrahim-Verbaas CA, van Duijn CM, Sikorska B, Golanska E, Liberski PP, Calero M, Calero O, Sanchez-Juan P, Salas A, Martinón-Torres F, Bouaziz-Amar E, Haïk S, Laplanche JL, Brandel JP, Amouyel P, Lambert JC, Parchi P, Bartoletti-Stella A, Capellari S, Poleggi A, Ladogana A, Pocchiari M, Aneli S, Matullo G, Knight R, Zafar S, Zerr I, Booth S, Coulthart MB, Jansen GH, Glisic K, Blevins J, Gambetti P, Safar J, Appleby B, Collinge J, Mead S. Jones E, et al. Among authors: geschwind md. Lancet Neurol. 2020 Oct;19(10):840-848. doi: 10.1016/S1474-4422(20)30273-8. Epub 2020 Sep 16. Lancet Neurol. 2020. PMID: 32949544 Free PMC article.
Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.
Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, Green A, Haïk S, Kovacs GG, Ladogana A, Llorens F, Mead S, Nishida N, Pal S, Parchi P, Pocchiari M, Satoh K, Zanusso G, Zerr I. Hermann P, et al. Among authors: geschwind md. Lancet Neurol. 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. Lancet Neurol. 2021. PMID: 33609480 Free PMC article. Review.
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Schmitz M, Villar-Piqué A, Hermann P, Escaramís G, Calero M, Chen C, Kruse N, Cramm M, Golanska E, Sikorska B, Liberski PP, Pocchiari M, Lange P, Stehmann C, Sarros S, Martí E, Baldeiras I, Santana I, Žáková D, Mitrová E, Dong XP, Collins S, Poleggi A, Ladogana A, Mollenhauer B, Kovacs GG, Geschwind MD, Sánchez-Valle R, Zerr I, Llorens F. Schmitz M, et al. Among authors: geschwind md. Brain. 2022 Apr 18;145(2):700-712. doi: 10.1093/brain/awab350. Brain. 2022. PMID: 35288744 Free PMC article.
Ascertainment bias causes false signal of anticipation in genetic prion disease.
Minikel EV, Zerr I, Collins SJ, Ponto C, Boyd A, Klug G, Karch A, Kenny J, Collinge J, Takada LT, Forner S, Fong JC, Mead S, Geschwind MD. Minikel EV, et al. Among authors: geschwind md. Am J Hum Genet. 2014 Oct 2;95(4):371-82. doi: 10.1016/j.ajhg.2014.09.003. Am J Hum Genet. 2014. PMID: 25279981 Free PMC article.
Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel EV, Vallabh SM, Orseth MC, Brandel JP, Haïk S, Laplanche JL, Zerr I, Parchi P, Capellari S, Safar J, Kenny J, Fong JC, Takada LT, Ponto C, Hermann P, Knipper T, Stehmann C, Kitamoto T, Ae R, Hamaguchi T, Sanjo N, Tsukamoto T, Mizusawa H, Collins SJ, Chiesa R, Roiter I, de Pedro-Cuesta J, Calero M, Geschwind MD, Yamada M, Nakamura Y, Mead S. Minikel EV, et al. Among authors: geschwind md. Neurology. 2019 Jul 9;93(2):e125-e134. doi: 10.1212/WNL.0000000000007745. Epub 2019 Jun 6. Neurology. 2019. PMID: 31171647 Free PMC article.
Ring trial of 2nd generation RT-QuIC diagnostic tests for sporadic CJD.
Orrú CD, Groveman BR, Foutz A, Bongianni M, Cardone F, McKenzie N, Culeux A, Poleggi A, Grznarova K, Perra D, Fiorini M, Liu X, Ladogana A, Sbriccoli M, Hughson AG, Haïk S, Green AJ, Geschwind MD, Pocchiari M, Safar JG, Zanusso G, Caughey B. Orrú CD, et al. Among authors: geschwind md. Ann Clin Transl Neurol. 2020 Nov;7(11):2262-2271. doi: 10.1002/acn3.51219. Ann Clin Transl Neurol. 2020. PMID: 33185334 Free PMC article. Clinical Trial.
Quinacrine treatment trial for sporadic Creutzfeldt-Jakob disease.
Geschwind MD, Kuo AL, Wong KS, Haman A, Devereux G, Raudabaugh BJ, Johnson DY, Torres-Chae CC, Finley R, Garcia P, Thai JN, Cheng HQ, Neuhaus JM, Forner SA, Duncan JL, Possin KL, Dearmond SJ, Prusiner SB, Miller BL. Geschwind MD, et al. Neurology. 2013 Dec 3;81(23):2015-23. doi: 10.1212/WNL.0b013e3182a9f3b4. Epub 2013 Oct 11. Neurology. 2013. PMID: 24122181 Free PMC article. Clinical Trial.
182 results