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Page 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: conforti fl. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
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.
Functional overlap and divergence between ALS and bvFTD.
Trojsi F, Esposito F, de Stefano M, Buonanno D, Conforti FL, Corbo D, Piccirillo G, Cirillo M, Monsurrò MR, Montella P, Tedeschi G. Trojsi F, et al. Among authors: conforti fl. Neurobiol Aging. 2015 Jan;36(1):413-23. doi: 10.1016/j.neurobiolaging.2014.06.025. Epub 2014 Jun 28. Neurobiol Aging. 2015. PMID: 25063233
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.
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS consortia. Borghero G, et al. Neurobiol Aging. 2015 Oct;36(10):2906.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.013. Epub 2015 Jun 25. Neurobiol Aging. 2015. PMID: 26208502 Free PMC article.
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium; Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL. Chiò A, et al. Among authors: conforti fl. Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8. Neurobiol Aging. 2016. PMID: 26733254 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.
SMN1 gene copy number analyses for SMA healthy carriers in Italian population.
Patitucci A, Magariello A, Ungaro C, Muglia M, Conforti FL, Gabriele AL, Citrigno L, Sproviero W, Mazzei R. Patitucci A, et al. Among authors: conforti fl. J Pediatr Genet. 2012 Jun;1(2):99-102. doi: 10.3233/PGE-2012-017. J Pediatr Genet. 2012. PMID: 27625809 Free PMC article.
125 results