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2014 1
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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, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: petrucci a. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
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: petrucci a. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Retrospective observational study on the use of acetyl-L-carnitine in ALS.
Sassi S, Bianchi E, Diamanti L, Tornabene D, Sette E, Medici D, Matà S, Leccese D, Sperti M, Martinelli I, Ghezzi A, Mandrioli J, Iuzzolino VV, Dubbioso R, Trojsi F, Passaniti C, D'Alvano G, Filosto M, Padovani A, Mazzini L, De Marchi F, Zinno L, Nuredini A, Bongioanni P, Dolciotti C, Canali E, Toschi G, Petrucci A, Perna A, Riso V, Inghilleri M, Libonati L, Cambieri C, Pupillo E. Sassi S, et al. Among authors: petrucci a. J Neurol. 2023 Nov;270(11):5344-5357. doi: 10.1007/s00415-023-11844-6. Epub 2023 Jun 28. J Neurol. 2023. PMID: 37378756 Free PMC article.
Immune checkpoint inhibitors (ICIs)-related ocular myositis.
Garibaldi M, Calabrò F, Merlonghi G, Pugliese S, Ceccanti M, Cristiano L, Tartaglione T, Petrucci A. Garibaldi M, et al. Among authors: petrucci a. Neuromuscul Disord. 2020 May;30(5):420-423. doi: 10.1016/j.nmd.2020.02.013. Epub 2020 Feb 26. Neuromuscul Disord. 2020. PMID: 32387281
Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients.
Garibaldi M, Fionda L, Vanoli F, Leonardi L, Loreti S, Bucci E, Di Pasquale A, Morino S, Vizzaccaro E, Merlonghi G, Ceccanti M, Lucchini M, Mirabella M, Andreetta F, Pennisi EM, Petrucci A, Salvetti M, Antonini G. Garibaldi M, et al. Among authors: petrucci a. Autoimmun Rev. 2020 Apr;19(4):102498. doi: 10.1016/j.autrev.2020.102498. Epub 2020 Feb 14. Autoimmun Rev. 2020. PMID: 32062029 Review.
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country.
Luigetti M, Guglielmino V, Antonini G, Casali C, Ceccanti M, Chiappini MG, De Giglio L, Di Lazzaro V, Di Muzio A, Goglia M, Inghilleri M, Leonardi L, Massa R, Pennisi EM, Petrucci A, Proietti E, Rispoli M, Sabatelli M, Di Girolamo M. Luigetti M, et al. Among authors: petrucci a. Genes (Basel). 2021 May 28;12(6):829. doi: 10.3390/genes12060829. Genes (Basel). 2021. PMID: 34071271 Free PMC article.
Creatine Kinase and Progression Rate in Amyotrophic Lateral Sclerosis.
Ceccanti M, Pozzilli V, Cambieri C, Libonati L, Onesti E, Frasca V, Fiorini I, Petrucci A, Garibaldi M, Palma E, Bendotti C, Fabbrizio P, Trolese MC, Nardo G, Inghilleri M. Ceccanti M, et al. Among authors: petrucci a. Cells. 2020 May 8;9(5):1174. doi: 10.3390/cells9051174. Cells. 2020. PMID: 32397320 Free PMC article.
Prevalence of amyotrophic lateral sclerosis in Latium region, Italy.
Puopolo M, Bacigalupo I, Piscopo P, Lacorte E, Di Pucchio A, Santarelli M, Inghilleri M, Petrucci A, Sabatelli M; Latium Registry Group; Vanacore N. Puopolo M, et al. Among authors: petrucci a. Brain Behav. 2021 Dec;11(12):e2378. doi: 10.1002/brb3.2378. Epub 2021 Oct 30. Brain Behav. 2021. PMID: 34716673 Free PMC article.
55 results