Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

392 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: barberis m. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 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
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A. Cagnoli C, et al. Among authors: barberis m. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342. Hum Mutat. 2010. PMID: 20725928
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.
392 results