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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Among authors: gellera c. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
Age and founder effect of SOD1 A4V mutation causing ALS.
Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, Gellera C, Andersen PM, Siddique T. Saeed M, et al. Among authors: gellera c. Neurology. 2009 May 12;72(19):1634-9. doi: 10.1212/01.wnl.0000343509.76828.2a. Epub 2009 Jan 28. Neurology. 2009. PMID: 19176896 Free PMC article.
No association of DPP6 with amyotrophic lateral sclerosis in an Italian population.
Fogh I, D'Alfonso S, Gellera C, Ratti A, Cereda C, Penco S, Corrado L, Sorarù G, Castellotti B, Tiloca C, Gagliardi S, Cozzi L, Lupton MK, Ticozzi N, Mazzini L, Shaw CE, Al-Chalabi A, Powell J, Silani V. Fogh I, et al. Among authors: gellera c. Neurobiol Aging. 2011 May;32(5):966-7. doi: 10.1016/j.neurobiolaging.2009.05.014. Epub 2009 Jun 13. Neurobiol Aging. 2011. PMID: 19525032
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Ticozzi N, LeClerc AL, Keagle PJ, Glass JD, Wills AM, van Blitterswijk M, Bosco DA, Rodriguez-Leyva I, Gellera C, Ratti A, Taroni F, McKenna-Yasek D, Sapp PC, Silani V, Furlong CE, Brown RH Jr, Landers JE. Ticozzi N, et al. Among authors: gellera c. Ann Neurol. 2010 Jul;68(1):102-7. doi: 10.1002/ana.21993. Ann Neurol. 2010. PMID: 20582942 Free PMC article.
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
Tiloca C, Ratti A, Pensato V, Castucci A, Sorarù G, Del Bo R, Corrado L, Cereda C, D'Ascenzo C, Comi GP, Mazzini L, Castellotti B, Ticozzi N, Gellera C, Silani V; SLAGEN Consortium. Tiloca C, et al. Among authors: gellera c. Neurobiol Aging. 2012 Mar;33(3):630.e1-2. doi: 10.1016/j.neurobiolaging.2011.10.025. Epub 2011 Dec 3. Neurobiol Aging. 2012. PMID: 22137929
228 results