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Page 1
Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.
Duperron MG, Knol MJ, Le Grand Q, Evans TE, Mishra A, Tsuchida A, Roshchupkin G, Konuma T, Trégouët DA, Romero JR, Frenzel S, Luciano M, Hofer E, Bourgey M, Dueker ND, Delgado P, Hilal S, Tankard RM, Dubost F, Shin J, Saba Y, Armstrong NJ, Bordes C, Bastin ME, Beiser A, Brodaty H, Bülow R, Carrera C, Chen C, Cheng CY, Deary IJ, Gampawar PG, Himali JJ, Jiang J, Kawaguchi T, Li S, Macalli M, Marquis P, Morris Z, Muñoz Maniega S, Miyamoto S, Okawa M, Paradise M, Parva P, Rundek T, Sargurupremraj M, Schilling S, Setoh K, Soukarieh O, Tabara Y, Teumer A, Thalamuthu A, Trollor JN, Valdés Hernández MC, Vernooij MW, Völker U, Wittfeld K, Wong TY, Wright MJ, Zhang J, Zhao W, Zhu YC, Schmidt H, Sachdev PS, Wen W, Yoshida K, Joutel A, Satizabal CL, Sacco RL, Bourque G; CHARGE consortium; Lathrop M, Paus T, Fernandez-Cadenas I, Yang Q, Mazoyer B, Boutinaud P, Okada Y, Grabe HJ, Mather KA, Schmidt R, Joliot M, Ikram MA, Matsuda F, Tzourio C, Wardlaw JM, Seshadri S, Adams HHH, Debette S. Duperron MG, et al. Nat Med. 2023 Apr;29(4):950-962. doi: 10.1038/s41591-023-02268-w. Epub 2023 Apr 17. Nat Med. 2023. PMID: 37069360 Free PMC article.
Novel mutation in the PYGM gene resulting in McArdle disease.
Rubio JC, Lucia A, Fernández-Cadenas I, Cabello A, Blázquez A, Gámez J, Andreu AL, Martín MA, Arenas J. Rubio JC, et al. Arch Neurol. 2006 Dec;63(12):1782-4. doi: 10.1001/archneur.63.12.1782. Arch Neurol. 2006. PMID: 17172620
Pharmacogenomic polygenic response score predicts ischaemic events and cardiovascular mortality in clopidogrel-treated patients.
Lewis JP, Backman JD, Reny JL, Bergmeijer TO, Mitchell BD, Ritchie MD, Déry JP, Pakyz RE, Gong L, Ryan K, Kim EY, Aradi D, Fernandez-Cadenas I, Lee MTM, Whaley RM, Montaner J, Gensini GF, Cleator JH, Chang K, Holmvang L, Hochholzer W, Roden DM, Winter S, Altman RB, Alexopoulos D, Kim HS, Gawaz M, Bliden KP, Valgimigli M, Marcucci R, Campo G, Schaeffeler E, Dridi NP, Wen MS, Shin JG, Fontana P, Giusti B, Geisler T, Kubo M, Trenk D, Siller-Matula JM, Ten Berg JM, Gurbel PA, Schwab M, Klein TE, Shuldiner AR; ICPC Investigators. Lewis JP, et al. Eur Heart J Cardiovasc Pharmacother. 2020 Jul 1;6(4):203-210. doi: 10.1093/ehjcvp/pvz045. Eur Heart J Cardiovasc Pharmacother. 2020. PMID: 31504375 Free PMC article.
Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study.
Domingues-Montanari S, Fernández-Cadenas I, del Rio-Espinola A, Corbeto N, Krug T, Manso H, Gouveia L, Sobral J, Mendioroz M, Fernández-Morales J, Alvarez-Sabin J, Ribó M, Rubiera M, Obach V, Martí-Fàbregas J, Freijo M, Serena J, Ferro JM, Vicente AM, Oliveira SA, Montaner J. Domingues-Montanari S, et al. Cerebrovasc Dis. 2010;29(6):528-37. doi: 10.1159/000302738. Epub 2010 Mar 30. Cerebrovasc Dis. 2010. PMID: 20357438
Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke.
Ibanez L, Heitsch L, Carrera C, Farias FHG, Dhar R, Budde J, Bergmann K, Bradley J, Harari O, Phuah CL, Lemmens R, Souza AAVO, Moniche F, Cabezas-Juan A, Arenillas JF, Krupinksi J, Cullell N, Torres-Aguila N, Muiño E, Cárcel-Márquez J, Marti-Fabregas J, Delgado-Mederos R, Marin-Bueno R, Hornick A, Vives-Bauza C, Navarro RD, Tur S, Jimenez C, Obach V, Segura T, Serrano-Heras G, Chung JW, Roquer J, Soriano-Tarraga C, Giralt-Steinhauer E, Mola-Caminal M, Pera J, Lapicka-Bodzioch K, Derbisz J, Davalos A, Lopez-Cancio E, Muñoz L, Tatlisumak T, Molina C, Ribo M, Bustamante A, Sobrino T, Castillo-Sanchez J, Campos F, Rodriguez-Castro E, Arias-Rivas S, Rodríguez-Yáñez M, Herbosa C, Ford AL, Arauz A, Lopes-Cendes I, Lowenkopf T, Barboza MA, Amini H, Stamova B, Ander BP, Sharp FR, Kim GM, Bang OY, Jimenez-Conde J, Slowik A, Stribian D, Tsai EA, Burkly LC, Montaner J, Fernandez-Cadenas I, Lee JM, Cruchaga C. Ibanez L, et al. medRxiv [Preprint]. 2020 Nov 3:2020.10.29.20222257. doi: 10.1101/2020.10.29.20222257. medRxiv. 2020. Update in: Brain. 2022 Jul 29;145(7):2394-2406. doi: 10.1093/brain/awac080 PMID: 33173895 Free PMC article. Updated. Preprint.
Platelet function/reactivity testing and prediction of risk of recurrent vascular events and outcomes after TIA or ischaemic stroke: systematic review and meta-analysis.
Lim ST, Thijs V, Murphy SJX, Fernandez-Cadenas I, Montaner J, Offiah C, Marquardt L, Kelly PJ, Bath PM, Lim SY, Ford GA, Norrving B, Cox D, Prodan CI, Barber PA, Werring DJ, Perry R, Zgaga L, Dawson J, McCabe DJH. Lim ST, et al. J Neurol. 2020 Oct;267(10):3021-3037. doi: 10.1007/s00415-020-09932-y. Epub 2020 Jun 9. J Neurol. 2020. PMID: 32518978 Free article.
TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.
Krug T, Gabriel JP, Taipa R, Fonseca BV, Domingues-Montanari S, Fernandez-Cadenas I, Manso H, Gouveia LO, Sobral J, Albergaria I, Gaspar G, Jiménez-Conde J, Rabionet R, Ferro JM, Montaner J, Vicente AM, Silva MR, Matos I, Lopes G, Oliveira SA. Krug T, et al. J Cereb Blood Flow Metab. 2012 Jun;32(6):1061-72. doi: 10.1038/jcbfm.2012.24. Epub 2012 Mar 28. J Cereb Blood Flow Metab. 2012. PMID: 22453632 Free PMC article. Clinical Trial.
169 results