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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: sbaiz l. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M, Calvo A, Moglia C, Brunetti M, Barberis M, Sbaiz L, Canosa A, Manera U, Vasta R, Corrado L, D'Alfonso S, Mazzini L, Scholz SW, Dalgard C, Ding J, Gibbs RJ, Chia R, Traynor BJ, Chiò A; American Genomic Center. Grassano M, et al. Among authors: sbaiz l. Neurology. 2021 Jan 26;96(4):e600-e609. doi: 10.1212/WNL.0000000000011209. Epub 2020 Nov 18. Neurology. 2021. PMID: 33208543 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: sbaiz l. 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.
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.
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
Canosa A, Calvo A, Moglia C, Vasta R, Palumbo F, Solero L, Di Pede F, Cabras S, Arena V, Zocco G, Casale F, Brunetti M, Sbaiz L, Gallone S, Grassano M, Manera U, Pagani M, Chiò A. Canosa A, et al. Among authors: sbaiz l. Eur J Nucl Med Mol Imaging. 2022 Jun;49(7):2242-2250. doi: 10.1007/s00259-021-05668-7. Epub 2022 Jan 25. Eur J Nucl Med Mol Imaging. 2022. PMID: 35076740 Free PMC article.
Brain 18fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations.
Canosa A, Calvo A, Moglia C, Vasta R, Palumbo F, Fuda G, Di Pede F, Cabras S, Arena V, Novara A, Salamone P, Matteoni E, Sbaiz L, Gallone S, Grassano M, Manera U, Chiò A, Pagani M. Canosa A, et al. Among authors: sbaiz l. J Neurol Neurosurg Psychiatry. 2022 Sep;93(9):1021-1023. doi: 10.1136/jnnp-2021-328296. Epub 2022 Mar 29. J Neurol Neurosurg Psychiatry. 2022. PMID: 35351820 No abstract available.
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.
Grassano M, Brodini G, De Marco G, Casale F, Fuda G, Salamone P, Brunetti M, Sbaiz L, Gallone S, Cugnasco P, Bombaci A, Vasta R, Manera U, Canosa A, Moglia C, Calvo A, Traynor BJ, Chio A. Grassano M, et al. Among authors: sbaiz l. Neurol Genet. 2022 Sep 12;8(5):e200011. doi: 10.1212/NXG.0000000000200011. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36105853 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.
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.
Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Mandrioli J, Salvi F, Spataro R, Schymick J, Traynor BJ, La Bella V; ITALSGEN Consortium. Chiò A, et al. Neurobiol Aging. 2009 Aug;30(8):1272-5. doi: 10.1016/j.neurobiolaging.2009.05.001. Epub 2009 May 17. Neurobiol Aging. 2009. PMID: 19450904 Free PMC article.
42 results