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Page 1
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Among authors: bombaci a. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
COVID-19 impact on neurology training program in Italy.
Di Lorenzo F, Ercoli T, Cuffaro L, Barbato F, Iodice F, Tedeschi G, Bombaci A; SIgN. Di Lorenzo F, et al. Among authors: bombaci a. Neurol Sci. 2021 Mar;42(3):817-823. doi: 10.1007/s10072-020-04991-5. Epub 2021 Jan 14. Neurol Sci. 2021. PMID: 33443668 Free PMC 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. Among authors: bombaci a. 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
Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR.
Peters S, Visser AE, D'Ovidio F, Vlaanderen J, Portengen L, Beghi E, Chio A, Logroscino G, Hardiman O, Pupillo E, Veldink JH, Vermeulen R, van den Berg LH; Euro-MOTOR consortium. Peters S, et al. J Neurol Neurosurg Psychiatry. 2020 Jan;91(1):33-39. doi: 10.1136/jnnp-2019-320986. Epub 2019 Aug 21. J Neurol Neurosurg Psychiatry. 2020. PMID: 31434759
Plasma pNfH levels differentiate SBMA from ALS.
Lombardi V, Bombaci A, Zampedri L, Lu CH, Malik B, Zetterberg H, Heslegrave AJ, Rinaldi C, Greensmith L, Hanna MG, Malaspina A, Fratta P. Lombardi V, et al. Among authors: bombaci a. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):215-217. doi: 10.1136/jnnp-2019-320624. Epub 2019 Oct 1. J Neurol Neurosurg Psychiatry. 2020. PMID: 31575607 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.
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.
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: bombaci a. Neurol Genet. 2022 Sep 12;8(5):e200011. doi: 10.1212/NXG.0000000000200011. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36105853 Free PMC article.
33 results