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Year Number of Results
2007 1
2008 2
2009 1
2010 1
2012 1
2013 2
2014 3
2015 7
2016 4
2018 1
2020 2
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2022 1
2024 0

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Page 1
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: cuccu s. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.
Muroni A, Murru MR, Ulgheri L, Sechi M, Ercoli T, Marrosu F, Scaglione CL, Bentivoglio AR, Petracca M, Soliveri P, Cocco E, Cuccu S, Deriu M, Zuccato C, Defazio G. Muroni A, et al. Among authors: cuccu s. Neurol Sci. 2021 Dec;42(12):5177-5181. doi: 10.1007/s10072-021-05217-y. Epub 2021 Apr 1. Neurol Sci. 2021. PMID: 33792825
Prevalence of Huntington's disease in Southern Sardinia, Italy.
Muroni A, Murru MR, Sechi M, Ercoli T, Marrosu F, Bentivoglio AR, Petracca M, Maria Scaglione CL, Soliveri P, Cocco E, Pedron M, Murgia M, Deriu M, Cuccu S, Ulgheri L, Zuccato C, Defazio G. Muroni A, et al. Among authors: cuccu s. Parkinsonism Relat Disord. 2020 Nov;80:54-57. doi: 10.1016/j.parkreldis.2020.09.011. Epub 2020 Sep 14. Parkinsonism Relat Disord. 2020. PMID: 32956974
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.
Progressive apraxia of speech in a patient with a C9orf72 mutation.
Di Stefano F, Melis M, Cannas A, Borghero G, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Marrosu MG, Marrosu F, Floris G. Di Stefano F, et al. Among authors: cuccu s. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct-Nov;17(7-8):608-609. doi: 10.1080/21678421.2016.1183680. Epub 2016 May 11. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 27166164 No abstract available.
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium; Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL. Chiò A, et al. Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8. Neurobiol Aging. 2016. PMID: 26733254 Free PMC article.
24 results