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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: pupillo e. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials.
Beghi E, Chiò A, Couratier P, Esteban J, Hardiman O, Logroscino G, Millul A, Mitchell D, Preux PM, Pupillo E, Stevic Z, Swingler R, Traynor BJ, Van den Berg LH, Veldink JH, Zoccolella S; Eurals Consortium. Beghi E, et al. Among authors: pupillo e. Amyotroph Lateral Scler. 2011 Jan;12(1):1-10. doi: 10.3109/17482968.2010.502940. Epub 2010 Aug 11. Amyotroph Lateral Scler. 2011. PMID: 20698807 Free PMC article. Review.
Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial.
Chiò A, Borghero G, Calvo A, Capasso M, Caponnetto C, Corbo M, Giannini F, Logroscino G, Mandrioli J, Marcello N, Mazzini L, Moglia C, Monsurrò MR, Mora G, Patti F, Perini M, Pietrini V, Pisano F, Pupillo E, Sabatelli M, Salvi F, Silani V, Simone IL, Sorarù G, Tola MR, Volanti P, Beghi E; LITALS Study Group. Chiò A, et al. Among authors: pupillo e. Neurology. 2010 Aug 17;75(7):619-25. doi: 10.1212/WNL.0b013e3181ed9e7c. Epub 2010 Aug 11. Neurology. 2010. PMID: 20702794 Clinical Trial.
Coffee and amyotrophic lateral sclerosis: a possible preventive role.
Beghi E, Pupillo E, Messina P, Giussani G, Chiò A, Zoccolella S, Moglia C, Corbo M, Logroscino G; EURALS Group. Beghi E, et al. Among authors: pupillo e. Am J Epidemiol. 2011 Nov 1;174(9):1002-8. doi: 10.1093/aje/kwr229. Epub 2011 Sep 26. Am J Epidemiol. 2011. PMID: 21946385 Free article.
Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS.
Beghi E, Pupillo E, Bonito V, Buzzi P, Caponnetto C, Chiò A, Corbo M, Giannini F, Inghilleri M, Bella VL, Logroscino G, Lorusso L, Lunetta C, Mazzini L, Messina P, Mora G, Perini M, Quadrelli ML, Silani V, Simone IL, Tremolizzo L; Italian ALS Study Group. Beghi E, et al. Among authors: pupillo e. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):397-405. doi: 10.3109/21678421.2013.764568. Epub 2013 Feb 19. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23421600 Clinical Trial.
Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset.
Tremolizzo L, Messina P, Conti E, Sala G, Cecchi M, Airoldi L, Pastorelli R, Pupillo E, Bandettini Di Poggio M, Filosto M, Lunetta C, Agliardi C, Guerini F, Mandrioli J, Calvo A, Beghi E, Ferrarese C; EURALS Consortium. Tremolizzo L, et al. Among authors: pupillo e. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):98-105. doi: 10.3109/21678421.2013.851247. Epub 2013 Nov 13. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24224837
69 results