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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.
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 J… See abstract for full author list ➔ Johnson JO, et al. Among authors: colombrita c. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
ELAV proteins along evolution: back to the nucleus?
Colombrita C, Silani V, Ratti A. Colombrita C, et al. Mol Cell Neurosci. 2013 Sep;56:447-55. doi: 10.1016/j.mcn.2013.02.003. Epub 2013 Feb 22. Mol Cell Neurosci. 2013. PMID: 23439364 Review.
Genetics of familial Amyotrophic lateral sclerosis.
Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A, Maderna L, Messina S, Ratti A, Silani V. Ticozzi N, et al. Among authors: colombrita c. Arch Ital Biol. 2011 Mar;149(1):65-82. doi: 10.4449/aib.v149i1.1262. Arch Ital Biol. 2011. PMID: 21412717 Review.
Phosphorylated tau in plasma could be a biomarker of lower motor neuron impairment in amyotrophic lateral sclerosis.
Verde F, Milone I, Colombo E, Maranzano A, Dubini A, Colombrita C, Gentile F, Doretti A, Torre S, Messina S, Morelli C, Torresani E, Poletti B, Priori A, Maderna L, Ratti A, Silani V, Ticozzi N. Verde F, et al. Among authors: colombrita c. Neurol Sci. 2023 Oct;44(10):3697-3702. doi: 10.1007/s10072-023-06916-4. Epub 2023 Jun 27. Neurol Sci. 2023. PMID: 37369876
The value of routine blood work-up in clinical stratification and prognosis of patients with amyotrophic lateral sclerosis.
Gentile F, Maranzano A, Verde F, Bettoni V, Colombo E, Doretti A, Olivero M, Scheveger F, Colombrita C, Bulgarelli I, Spinelli EG, Torresani E, Messina S, Maderna L, Agosta F, Morelli C, Filippi M, Silani V, Ticozzi N. Gentile F, et al. Among authors: colombrita c. J Neurol. 2024 Feb;271(2):794-803. doi: 10.1007/s00415-023-12015-3. Epub 2023 Oct 6. J Neurol. 2024. PMID: 37801095 Free PMC article.
SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution.
Maraschi A, Gumina V, Dragotto J, Colombrita C, Mompeán M, Buratti E, Silani V, Feligioni M, Ratti A. Maraschi A, et al. Among authors: colombrita c. Mol Neurobiol. 2021 Nov;58(11):5682-5702. doi: 10.1007/s12035-021-02505-8. Epub 2021 Aug 14. Mol Neurobiol. 2021. PMID: 34390468 Free PMC article.
49 results