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Page 1
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.
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A, Schmitz M, Lachmann I, Karch A, Calero O, Stehmann C, Sarros S, Ladogana A, Poleggi A, Santana I, Ferrer I, Mitrova E, Žáková D, Pocchiari M, Baldeiras I, Calero M, Collins SJ, Geschwind MD, Sánchez-Valle R, Zerr I, Llorens F. Villar-Piqué A, et al. Among authors: geschwind md. Mol Neurobiol. 2019 Apr;56(4):2811-2821. doi: 10.1007/s12035-018-1251-1. Epub 2018 Jul 30. Mol Neurobiol. 2019. PMID: 30062673 Free article.
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.
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Vallabh SM, Nobuhara CK, Llorens F, Zerr I, Parchi P, Capellari S, Kuhn E, Klickstein J, Safar JG, Nery FC, Swoboda KJ, Geschwind MD, Zetterberg H, Arnold SE, Minikel EV, Schreiber SL. Vallabh SM, et al. Among authors: geschwind md. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7793-7798. doi: 10.1073/pnas.1901947116. Epub 2019 Apr 1. Proc Natl Acad Sci U S A. 2019. PMID: 30936307 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.
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.
Prion diseases.
Takada LT, Geschwind MD. Takada LT, et al. Among authors: geschwind md. Semin Neurol. 2013 Sep;33(4):348-56. doi: 10.1055/s-0033-1359314. Epub 2013 Nov 14. Semin Neurol. 2013. PMID: 24234356 Review.
Prion disease.
Takada LT, Kim MO, Metcalf S, Gala II, Geschwind MD. Takada LT, et al. Among authors: geschwind md. Handb Clin Neurol. 2018;148:441-464. doi: 10.1016/B978-0-444-64076-5.00029-6. Handb Clin Neurol. 2018. PMID: 29478593 Review.
183 results