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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: simone il. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
Mancuso M, Conforti FL, Rocchi A, Tessitore A, Muglia M, Tedeschi G, Panza D, Monsurrò M, Sola P, Mandrioli J, Choub A, DelCorona A, Manca ML, Mazzei R, Sprovieri T, Filosto M, Salviati A, Valentino P, Bono F, Caracciolo M, Simone IL, La Bella V, Majorana G, Siciliano G, Murri L, Quattrone A. Mancuso M, et al. Among authors: simone il. Neurosci Lett. 2004 Nov 23;371(2-3):158-62. doi: 10.1016/j.neulet.2004.08.060. Neurosci Lett. 2004. PMID: 15519748
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele A, Labella V, Simone IL, Majorana G, Monsurrò MR, Valentino P, Muglia M, Quattrone A. Conforti FL, et al. Among authors: simone il. J Negat Results Biomed. 2006 May 29;5:7. doi: 10.1186/1477-5751-5-7. J Negat Results Biomed. 2006. PMID: 16729899 Free PMC article.
Serum N-acetylaspartate level in amyotrophic lateral sclerosis.
Simone IL, Ruggieri M, Tortelli R, Ceci E, D'Errico E, Leo A, Zoccolella S, Mastrapasqua M, Capozzo R, Livrea P, Logroscino G. Simone IL, et al. Arch Neurol. 2011 Oct;68(10):1308-12. doi: 10.1001/archneurol.2011.217. Arch Neurol. 2011. PMID: 21987545
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL. Sproviero W, et al. Among authors: simone il. Neurobiol Aging. 2012 Apr;33(4):837.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.005. Epub 2011 Nov 4. Neurobiol Aging. 2012. PMID: 22055719 Free article.
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.
Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, Simone IL. Tortelli R, et al. Among authors: simone il. Neurobiol Aging. 2013 Jun;34(6):1709.e3-5. doi: 10.1016/j.neurobiolaging.2012.10.027. Epub 2012 Nov 22. Neurobiol Aging. 2013. PMID: 23182243
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. Among authors: simone il. Neurology. 2012 Dec 11;79(24):2315-20. doi: 10.1212/WNL.0b013e318278b618. Epub 2012 Nov 28. Neurology. 2012. PMID: 23197749
128 results