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Page 1
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: duga s. 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.
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.
Paraboschi EM, Rimoldi V, Soldà G, Tabaglio T, Dall'Osso C, Saba E, Vigliano M, Salviati A, Leone M, Benedetti MD, Fornasari D, Saarela J, De Jager PL, Patsopoulos NA, D'Alfonso S, Gemmati D, Duga S, Asselta R. Paraboschi EM, et al. Among authors: duga s. Hum Mol Genet. 2014 Dec 20;23(25):6746-61. doi: 10.1093/hmg/ddu392. Epub 2014 Jul 30. Hum Mol Genet. 2014. PMID: 25080502
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: duga s. 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.
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE. Smith BN, et al. Among authors: duga s. Sci Transl Med. 2017 May 3;9(388):eaad9157. doi: 10.1126/scitranslmed.aad9157. Sci Transl Med. 2017. PMID: 28469040 Free PMC article.
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.
Perez Carrion M, Pischedda F, Biosa A, Russo I, Straniero L, Civiero L, Guida M, Gloeckner CJ, Ticozzi N, Tiloca C, Mariani C, Pezzoli G, Duga S, Pichler I, Pan L, Landers JE, Greggio E, Hess MW, Goldwurm S, Piccoli G. Perez Carrion M, et al. Among authors: duga s. Front Mol Neurosci. 2018 Feb 28;11:64. doi: 10.3389/fnmol.2018.00064. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29541021 Free PMC article.
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE. de Majo M, et al. Among authors: duga s. Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25. Neurobiol Aging. 2018. PMID: 30033073 Free PMC article.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A. Monfrini E, et al. Among authors: duga s. Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1. Parkinsonism Relat Disord. 2019. PMID: 30850329 Free article.
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Bitetto G, Malaguti MC, Ceravolo R, Monfrini E, Straniero L, Morini A, Di Giacopo R, Frosini D, Palermo G, Biella F, Ronchi D, Duga S, Taroni F, Corti S, Comi GP, Bresolin N, Giometto B, Di Fonzo A. Bitetto G, et al. Among authors: duga s. Parkinsonism Relat Disord. 2020 May;74:1-5. doi: 10.1016/j.parkreldis.2020.03.018. Epub 2020 Apr 2. Parkinsonism Relat Disord. 2020. PMID: 32259769 Free article.
187 results