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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 M, Cich… See abstract for full author list ➔ van Rheenen W, et al. 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.
Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study.
Faghri F, Brunn F, Dadu A; PARALS consortium; ERRALS consortium; Zucchi E, Martinelli I, Mazzini L, Vasta R, Canosa A, Moglia C, Calvo A, Nalls MA, Campbell RH, Mandrioli J, Traynor BJ, Chiò A. Faghri F, et al. Lancet Digit Health. 2022 May;4(5):e359-e369. doi: 10.1016/S2589-7500(21)00274-0. Epub 2022 Mar 24. Lancet Digit Health. 2022. PMID: 35341712 Free PMC article.
Author Correction: 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 M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Nat Genet. 2022 Mar;54(3):361. doi: 10.1038/s41588-022-01020-3. Nat Genet. 2022. PMID: 35102318 Free PMC article. No abstract available.
Respiratory support in a population-based ALS cohort: demographic, timing and survival determinants.
Chio A, Moglia C, Canosa A, Manera U, Vasta R, Grassano M, Palumbo F, Torrieri MC, Solero L, Mattei A, Ribolla F, Launaro N, De Marchi F, Mazzini L, Mora G, Calvo A. Chio A, et al. Among authors: launaro n. J Neurol Neurosurg Psychiatry. 2022 Jul 11;93(9):1024-6. doi: 10.1136/jnnp-2021-327968. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35817551 Free PMC article. No abstract available.
Tailoring patients' enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs.
Torrieri MC, Manera U, Mora G, Canosa A, Vasta R, Fuda G, Salamone P, Grassano M, Cugnasco P, Launaro N, De Marchi F, Mattei A, Mazzini L, Moglia C, Calvo A, Chiò A. Torrieri MC, et al. Among authors: launaro n. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):108-115. doi: 10.1080/21678421.2021.1936063. Epub 2021 Aug 6. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34355622
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium; International League Against Epilepsy Consortium on Complex Epilepsies. Schijven D, et al. Neurobiol Aging. 2020 Aug;92:153.e1-153.e5. doi: 10.1016/j.neurobiolaging.2020.04.011. Epub 2020 Apr 18. Neurobiol Aging. 2020. PMID: 32409253 Free PMC article.
Predicting functional impairment trajectories in amyotrophic lateral sclerosis: a probabilistic, multifactorial model of disease progression.
Tavazzi E, Daberdaku S, Zandonà A, Vasta R, Nefussy B, Lunetta C, Mora G, Mandrioli J, Grisan E, Tarlarini C, Calvo A, Moglia C, Drory V, Gotkine M, Chiò A, Di Camillo B; Piemonte, Valle d’Aosta Register for ALS (PARALS), for the Emilia Romagna Registry for ALS (ERRALS). Tavazzi E, et al. J Neurol. 2022 Jul;269(7):3858-3878. doi: 10.1007/s00415-022-11022-0. Epub 2022 Mar 10. J Neurol. 2022. PMID: 35266043 Free PMC article.
PEEP and Mechanical Ventilation: We Are Warned, We Cannot Ignore.
Appendini L, Esquinas A, Launaro N, Purro A. Appendini L, et al. Among authors: launaro n. Respir Care. 2016 May;61(5):720-1. doi: 10.4187/respcare.04795. Respir Care. 2016. PMID: 27121629 Free article. No abstract available.
ATXN2 polyQ intermediate repeats are a modifier of ALS survival.
Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Restagno G, Conte A, Bisogni G, Marangi G, Moncada A, Lattante S, Zollino M, Sabatelli M, Bagarotti A, Corrado L, Mora G, Bersano E, Mazzini L, D'Alfonso S; PARALS. Chiò A, et al. Neurology. 2015 Jan 20;84(3):251-8. doi: 10.1212/WNL.0000000000001159. Epub 2014 Dec 19. Neurology. 2015. PMID: 25527265 Free article.
Early weight loss in amyotrophic lateral sclerosis: outcome relevance and clinical correlates in a population-based cohort.
Moglia C, Calvo A, Grassano M, Canosa A, Manera U, D'Ovidio F, Bombaci A, Bersano E, Mazzini L, Mora G, Chiò A; Piemonte and Valle d’Aosta Register for ALS (PARALS). Moglia C, et al. J Neurol Neurosurg Psychiatry. 2019 Jun;90(6):666-673. doi: 10.1136/jnnp-2018-319611. Epub 2019 Jan 10. J Neurol Neurosurg Psychiatry. 2019. PMID: 30630957
13 results