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A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
Sorosina M, Barizzone N, Clarelli F, Anand S, Lupoli S, Salvi E, Mangano E, Bordoni R, Roostaei T, Mascia E, Zuccalà M, Vecchio D, Cavalla P, Santoro S, Ferrè L, Zollo A; PROGEMUS; Barlassina C, Cusi D, Martinelli V, Comi G, Leone M, Filippi M, Patsopoulos NA, De Jager PL, De Bellis G, Esposito F, D'Alfonso S, Martinelli Boneschi F. Sorosina M, et al. Among authors: mascia e. J Neurol. 2022 Aug;269(8):4510-4522. doi: 10.1007/s00415-022-11109-8. Epub 2022 May 12. J Neurol. 2022. PMID: 35545683 Free PMC article.
Inverse correlation of genetic risk score with age at onset in bout-onset and progressive-onset multiple sclerosis.
Sorosina M, Esposito F, Guaschino C, Clarelli F, Barizzone N, Osiceanu AM, Brambilla P, Mascia E, Cavalla P, Gallo P; PROGRESSO; PROGEMUS; Martinelli V, Leone M, Comi G, D'Alfonso S, Martinelli Boneschi F. Sorosina M, et al. Among authors: mascia e. Mult Scler. 2015 Oct;21(11):1463-7. doi: 10.1177/1352458514561910. Epub 2014 Dec 22. Mult Scler. 2015. PMID: 25533292
Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction.
Esposito F, Guaschino C, Sorosina M, Clarelli F, Ferre' L, Mascia E, Santoro S, Pagnesi M, Radaelli M, Colombo B, Moiola L, Rodegher M, Stupka E, Martinelli V, Comi G, Martinelli Boneschi F. Esposito F, et al. Among authors: mascia e. Neurol Neuroimmunol Neuroinflamm. 2015 Jul 9;2(4):e129. doi: 10.1212/NXI.0000000000000129. eCollection 2015 Aug. Neurol Neuroimmunol Neuroinflamm. 2015. PMID: 26185776 Free PMC article.
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.
International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu; International Multiple Sclerosis Genetics Consortium. International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu, et al. Cell. 2018 Nov 29;175(6):1679-1687.e7. doi: 10.1016/j.cell.2018.09.049. Epub 2018 Oct 18. Cell. 2018. PMID: 30343897 Free PMC article.
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt JA, Traboulsee AL, Encarnacion M, Bernales CQ, Follett J, Yee IM, Criscuoli MG, Deutschländer A, Reinthaler EM, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick AD. Vilariño-Güell C, et al. Among authors: mascia e. PLoS Genet. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180. eCollection 2019 Jun. PLoS Genet. 2019. PMID: 31170158 Free PMC article.
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.
International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu; International Multiple Sclerosis Genetics Consortium. International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu, et al. Cell. 2020 Jan 23;180(2):403. doi: 10.1016/j.cell.2020.01.002. Cell. 2020. PMID: 31978348 Free PMC article. No abstract available.
39 results