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Page 1
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, Quattrone A, Fiumara A, Barone R, Pavone L, Nisticò R, Mangone L. Conforti FL, et al. Am J Med Genet A. 2003 Mar 1;117A(2):184-7. doi: 10.1002/ajmg.a.10898. Am J Med Genet A. 2003. PMID: 12567420 No abstract available.
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V. Conforti FL, et al. Neurology. 2012 Dec 11;79(24):2315-20. doi: 10.1212/WNL.0b013e318278b618. Epub 2012 Nov 28. Neurology. 2012. PMID: 23197749
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators. Fogh I, et al. Among authors: conforti fl. Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20. Hum Mol Genet. 2014. PMID: 24256812 Free PMC 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: conforti fl. 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.
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta 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, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL, Penco S; ITALSGEN consortium; SARDINIALS consortium; Brunetti M, Barberis M, Restagno G. Chiò A, et al. Among authors: conforti fl. Neurobiol Aging. 2015 Oct;36(10):2906.e7-11. doi: 10.1016/j.neurobiolaging.2015.06.016. Epub 2015 Jun 18. Neurobiol Aging. 2015. PMID: 26174855 Free PMC article.
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. 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.
125 results