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Page 1
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.
Malena A, Pennuto M, Tezze C, Querin G, D'Ascenzo C, Silani V, Cenacchi G, Scaramozza A, Romito S, Morandi L, Pegoraro E, Russell AP, Sorarù G, Vergani L. Malena A, et al. Among authors: silani v. Acta Neuropathol. 2013 Jul;126(1):109-21. doi: 10.1007/s00401-013-1122-9. Epub 2013 May 4. Acta Neuropathol. 2013. PMID: 23644820
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: silani v. 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
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.
Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V; SLAGEN Consortium. Ratti A, et al. Among authors: silani v. Neurobiol Aging. 2012 Oct;33(10):2528.e7-14. doi: 10.1016/j.neurobiolaging.2012.06.008. Epub 2012 Jul 4. Neurobiol Aging. 2012. PMID: 22766072
Pilot trial of clenbuterol in spinal and bulbar muscular atrophy.
Querin G, D'Ascenzo C, Peterle E, Ermani M, Bello L, Melacini P, Morandi L, Mazzini L, Silani V, Raimondi M, Mandrioli J, Romito S, Angelini C, Pegoraro E, Sorarù G. Querin G, et al. Among authors: silani v. Neurology. 2013 Jun 4;80(23):2095-8. doi: 10.1212/WNL.0b013e318295d766. Epub 2013 May 3. Neurology. 2013. PMID: 23645595 Clinical Trial.
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: silani v. 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.
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium; van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE. Smith BN, et al. Among authors: silani v. Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22. Neuron. 2014. PMID: 25374358 Free PMC article.
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease. Querin G, et al. Among authors: silani v. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26. J Neurol Neurosurg Psychiatry. 2016. PMID: 26503015 Free PMC article.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: silani v. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 Free PMC article.
Factors predicting survival in ALS: a multicenter Italian study.
Calvo A, Moglia C, Lunetta C, Marinou K, Ticozzi N, Ferrante GD, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Chiò A, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Riva N, Logroscino G, Messina S, Fini N, Mandrioli J. Calvo A, et al. Among authors: silani v. J Neurol. 2017 Jan;264(1):54-63. doi: 10.1007/s00415-016-8313-y. Epub 2016 Oct 24. J Neurol. 2017. PMID: 27778156 Free article.
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. Among authors: silani v. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
472 results