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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 … See abstract for full author list ➔ van Rheenen W, et al. Among authors: grassano m. 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.
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serra… See abstract for full author list ➔ Chia R, et al. Among authors: grassano m. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 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: grassano m. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison KE, Shaw PJ, Basak AN, Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, Gotkine M, Lerner Y, Zabari M, Vourc'h P, Corcia P, Couratier P, Mora Pardina JS, Salas T, Dion P, Ross JP, Henderson RD, Mathers S, McCombe PA, Needham M, Nicholson G, Rowe DB, Pamphlett R, Mather KA, Sachdev PS, Furlong S, Garton FC, Henders AK, Lin T, Ngo ST, Steyn FJ, Wallace L, Williams KL; BIOS Consortium; Brain MEND Consortium; Neto MM, Cauchi RJ, Blair IP, Kiernan MC, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau GA, Silani V, Landers JE, Shaw CE, Andersen PM, McRae AF, van Es MA, Pasterkamp RJ, Wray NR, McLaughlin RL, Hardiman O, Kenna KP, Tsai E, Runz H, Al-Chalabi A, van den Berg LH, Van Damme P, Mill J, Veldink JH. Hop PJ, et al. Among authors: grassano m. Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23. Sci Transl Med. 2022. PMID: 35196023 Free PMC article.
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH; Project Mine Als Sequencing Consortium; Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L. Megat S, et al. Among authors: grassano m. Nat Commun. 2023 Jan 20;14(1):342. doi: 10.1038/s41467-022-35724-1. Nat Commun. 2023. PMID: 36670122 Free PMC article.
What is amyotrophic lateral sclerosis prevalence?
Vasta R, Moglia C, Manera U, Canosa A, Grassano M, Palumbo F, Cugnasco P, De Marchi F, Mazzini L, Calvo A, ChiÒ A; PIEMONTE AND VALLE D’AOSTA REGISTER FOR ALS (PARALS). Vasta R, et al. Among authors: grassano m. Amyotroph Lateral Scler Frontotemporal Degener. 2022 May;23(3-4):203-208. doi: 10.1080/21678421.2021.1936557. Epub 2021 Jun 21. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34151660
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: grassano m. 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.
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: grassano m. 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.
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: grassano m. 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.
Systematic evaluation of genetic mutations in ALS: a population-based study.
Grassano M, Calvo A, Moglia C, Sbaiz L, Brunetti M, Barberis M, Casale F, Manera U, Vasta R, Canosa A, D'Alfonso S, Corrado L, Mazzini L, Dalgard C, Karra R, Chia R, Traynor B, Chiò A. Grassano M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27;93(11):1190-3. doi: 10.1136/jnnp-2022-328931. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896380 Free PMC article.
53 results