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Page 1
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.
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis.
Fioretti PV, Barbieri A, Migazzi A, Bressan D, Grassano M, Donini L, Roccuzzo M, Torrieri MC, Conci F, Ferracci E, Invernizzi S, Bowden KM, Bacchetti F, Cappelli S, Peroni D, Belli R, Pancher M, Mugoni V, Scarduelli G, Gianesello M, Pasetto L, Canarutto G, Carra S, Soldano A, Bisio A, Robbiati S, Valentini C, Nardella C, Piazza S, D'Agostino VG, Quattrone A, Sleiman S, Whitfield JR, Soucek L, Vignoli B, Viero G, Tiberi L, Zippo A, Demichelis F, Bonetto V, Milanese M, Buratti E, Verde F, Ticozzi N, Calvo A, Ratti A, Shaw PJ, Terenzio M, Chiacchiera F, Pennuto M, Basso M. Fioretti PV, et al. Among authors: torrieri mc. Brain. 2025 Sep 26:awaf360. doi: 10.1093/brain/awaf360. Online ahead of print. Brain. 2025. PMID: 41004427
Respiratory measurements, respiratory symptoms, and quality of life in ALS: results from the REVEALS study.
Murray D, Rooney J, Meldrum D, Al-Chalabi A, Bunte TM, Chiwera T, Choudhury M, Chio A, Fenton L, Fortune J, Maidment L, Manera U, McDermott CJ, Meyjes M, Tattersall R, Torrieri MC, Van Damme P, Vanderlinden E, Wood C, Van Den Berg LH, Hardiman O. Murray D, et al. Among authors: torrieri mc. Amyotroph Lateral Scler Frontotemporal Degener. 2025 Aug;26(5-6):467-477. doi: 10.1080/21678421.2025.2471421. Epub 2025 Mar 6. Amyotroph Lateral Scler Frontotemporal Degener. 2025. PMID: 40047382 Free article.
Validation of the Italian version of self-administered ALSFRS-R scale.
Manera U, Cabras S, Daviddi M, Vasta R, Torrieri MC, Palumbo F, Bombaci A, Grassano M, Solero L, Peotta L, Iazzolino B, Canosa A, Calvo A, Chiò A, Moglia C. Manera U, et al. Among authors: torrieri mc. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Feb;22(1-2):151-153. doi: 10.1080/21678421.2020.1813307. Epub 2020 Aug 28. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 32856494
Serum chloride as a respiratory failure marker in amyotrophic lateral sclerosis.
Manera U, Grassano M, Matteoni E, Bombaci A, Vasta R, Palumbo F, Torrieri MC, Cugnasco P, Moglia C, Canosa A, Chiò A, Calvo A. Manera U, et al. Among authors: torrieri mc. Front Aging Neurosci. 2023 May 24;15:1188827. doi: 10.3389/fnagi.2023.1188827. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37293667 Free PMC article.
Amyotrophic lateral sclerosis caregiver burden and patients' quality of life during COVID-19 pandemic.
Giusiano S, Peotta L, Iazzolino B, Mastro E, Arcari M, Palumbo F, Torrieri MC, Bombaci A, Grassano M, Cabras S, Di Pede F, DeMattei F, Matteoni E, Solero L, Daviddi M, Salamone P, Fuda G, Manera U, Canosa A, Chiò A, Calvo A, Moglia C, Vasta R. Giusiano S, et al. Among authors: torrieri mc. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):146-148. doi: 10.1080/21678421.2021.1912772. Epub 2021 Apr 16. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 33860702
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: torrieri mc. 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.
REVEALS-a longitudinal cohort study of multifaceted respiratory assessment in ALS.
Rooney J, Murray D, Meldrum D, Al-Chalabi A, Bunte T, Chiwera T, Choudhury M, Chio A, Fenton L, Fortune J, Maidment L, Manera U, McDermott CJ, Meyjes M, Tattersall R, Torrieri MC, Van Damme P, Vanderlinden E, Wood C, van den Berg LH, Hardiman O. Rooney J, et al. Among authors: torrieri mc. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Nov;25(7-8):661-671. doi: 10.1080/21678421.2024.2359556. Epub 2024 Jun 6. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38845371 Free PMC article.
35 results