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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.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: iazzolino b. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Chiò A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor BJ, Corrado L, D'Alfonso S, Mazzini L, Calvo A. Chiò A, et al. Among authors: iazzolino b. Neurology. 2023 Jul 4;101(1):e83-e93. doi: 10.1212/WNL.0000000000207367. Epub 2023 May 18. Neurology. 2023. PMID: 37202167 Free PMC article.
GBA variants influence cognitive status in amyotrophic lateral sclerosis.
Canosa A, Grassano M, Moglia C, Iazzolino B, Peotta L, Gallone S, Brunetti M, Barberis M, Sbaiz L, Palumbo F, Cabras S, Manera U, Vasta R, Traynor B, Corrado L, D'Alfonso S, Mazzini L, Calvo A, Chio A. Canosa A, et al. Among authors: iazzolino b. J Neurol Neurosurg Psychiatry. 2022 Apr;93(4):453-455. doi: 10.1136/jnnp-2021-327426. Epub 2021 Sep 28. J Neurol Neurosurg Psychiatry. 2022. PMID: 34583942 Free PMC article. No abstract available.
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.
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: iazzolino b. 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
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: iazzolino b. 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
18F-FDG-PET correlates of cognitive impairment in ALS.
Canosa A, Pagani M, Cistaro A, Montuschi A, Iazzolino B, Fania P, Cammarosano S, Ilardi A, Moglia C, Calvo A, Chiò A. Canosa A, et al. Among authors: iazzolino b. Neurology. 2016 Jan 5;86(1):44-9. doi: 10.1212/WNL.0000000000002242. Epub 2015 Nov 20. Neurology. 2016. PMID: 26590270 Free article.
32 results