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TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Among authors: barberis m. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
Mutations in the lamin B1 gene are not present in multiple sclerosis.
Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: barberis m. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623
Genetic architecture of ALS in Sardinia.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Among authors: barberis m. Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18. Neurobiol Aging. 2014. PMID: 25123918 Free PMC article.
NADPH oxidase (NOX2) activity is a modifier of survival in ALS.
Marrali G, Casale F, Salamone P, Fuda G, Caorsi C, Amoroso A, Brunetti M, Restagno G, Barberis M, Bertuzzo D, Canosa A, Moglia C, Calvo A, Chiò A. Marrali G, et al. Among authors: barberis m. J Neurol. 2014 Nov;261(11):2178-83. doi: 10.1007/s00415-014-7470-0. Epub 2014 Sep 2. J Neurol. 2014. PMID: 25178511
A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.
Canosa A, Calvo A, Moglia C, Barberis M, Brunetti M, Cammarosano S, Manera U, Ilardi A, Restagno G, Chiò A. Canosa A, et al. Among authors: barberis m. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):127-8. doi: 10.3109/21678421.2014.966312. Epub 2014 Oct 9. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25299943
Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor.
Canosa A, Calvo A, Barberis M, Brunetti M, Restagno G, Cammarosano S, Ilardi A, Vigliani MC, Chiò A, Moglia C. Canosa A, et al. Among authors: barberis m. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):129-30. doi: 10.3109/21678421.2014.969274. Epub 2014 Oct 22. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25336094 No abstract available.
ATXN2 polyQ intermediate repeats are a modifier of ALS survival.
Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Restagno G, Conte A, Bisogni G, Marangi G, Moncada A, Lattante S, Zollino M, Sabatelli M, Bagarotti A, Corrado L, Mora G, Bersano E, Mazzini L, D'Alfonso S; PARALS. Chiò A, et al. Among authors: barberis m. Neurology. 2015 Jan 20;84(3):251-8. doi: 10.1212/WNL.0000000000001159. Epub 2014 Dec 19. Neurology. 2015. PMID: 25527265 Free article.
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Nilo R, Battistini S, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL; ITALSGEN Consortium; Brunetti M, Barberis M, Restagno G, Penco S, Lunetta C. Chiò A, et al. Among authors: barberis m. Neurobiol Aging. 2015 Apr;36(4):1767.e3-1767.e6. doi: 10.1016/j.neurobiolaging.2015.01.017. Epub 2015 Jan 28. Neurobiol Aging. 2015. PMID: 25726362 Free PMC article.
392 results