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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: lauria g. 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.
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.
Gellera C, Ticozzi N, Pensato V, Nanetti L, Castucci A, Castellotti B, Lauria G, Taroni F, Silani V, Mariotti C. Gellera C, et al. Among authors: lauria g. Neurobiol Aging. 2012 Aug;33(8):1847.e15-21. doi: 10.1016/j.neurobiolaging.2012.02.004. Epub 2012 Mar 16. Neurobiol Aging. 2012. PMID: 22425256
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S, Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C, Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP, D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V; SLAGEN Consortium. Tiloca C, et al. Among authors: lauria g. Neurobiol Aging. 2013 May;34(5):1517.e9-10. doi: 10.1016/j.neurobiolaging.2012.09.016. Epub 2012 Oct 11. Neurobiol Aging. 2013. PMID: 23063648 Free PMC article.
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study.
Lauria G, Dalla Bella E, Antonini G, Borghero G, Capasso M, Caponnetto C, Chiò A, Corbo M, Eleopra R, Fazio R, Filosto M, Giannini F, Granieri E, La Bella V, Logroscino G, Mandrioli J, Mazzini L, Monsurrò MR, Mora G, Pietrini V, Quatrale R, Rizzi R, Salvi F, Siciliano G, Sorarù G, Volanti P, Tramacere I, Filippini G; EPOS Trial Study Group. Lauria G, et al. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):879-86. doi: 10.1136/jnnp-2014-308996. Epub 2015 Jan 16. J Neurol Neurosurg Psychiatry. 2015. PMID: 25595151 Free PMC article. Clinical Trial.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium; Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB. Cirulli ET, et al. Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19. Science. 2015. PMID: 25700176 Free PMC article.
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.
Pensato V, Tiloca C, Corrado L, Bertolin C, Sardone V, Del Bo R, Calini D, Mandrioli J, Lauria G, Mazzini L, Querin G, Ceroni M, Cantello R, Corti S, Castellotti B, Soldà G, Duga S, Comi GP, Cereda C, Sorarù G, D'Alfonso S, Taroni F, Shaw CE, Landers JE, Ticozzi N, Ratti A, Gellera C, Silani V; SLAGEN Consortium. Pensato V, et al. Among authors: lauria g. J Neurol. 2015 May;262(5):1376-8. doi: 10.1007/s00415-015-7739-y. Epub 2015 Apr 18. J Neurol. 2015. PMID: 25893256 Free PMC article. No abstract available.
412 results