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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: fini n. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): A population based study.
Mandrioli J, Biguzzi S, Guidi C, Venturini E, Sette E, Terlizzi E, Ravasio A, Casmiro M, Salvi F, Liguori R, Rizzi R, Pietrini V, Chierici E, Santangelo M, Granieri E, Mussuto V, Borghi A, Rinaldi R, Fini N, Georgoulopoulou E, De Pasqua S, Vinceti M, Bonvicini F; Errals Group; Ferro S, D'Alessandro R. Mandrioli J, et al. Among authors: fini n. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):262-8. doi: 10.3109/21678421.2013.865752. Epub 2014 Feb 7. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24863640
Heterogeneity in ALSFRS-R decline and survival: a population-based study in Italy.
Mandrioli J, Biguzzi S, Guidi C, Sette E, Terlizzi E, Ravasio A, Casmiro M, Salvi F, Liguori R, Rizzi R, Pietrini V, Borghi A, Rinaldi R, Fini N, Chierici E, Santangelo M, Granieri E, Mussuto V, De Pasqua S, Georgoulopoulou E, Fasano A; ERRALS Group; Ferro S, D'Alessandro R. Mandrioli J, et al. Among authors: fini n. Neurol Sci. 2015 Dec;36(12):2243-52. doi: 10.1007/s10072-015-2343-6. Epub 2015 Jul 24. Neurol Sci. 2015. PMID: 26205535
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.
Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
De Marco G, Lomartire A, Calvo A, Risso A, De Luca E, Mostert M, Mandrioli J, Caponnetto C, Borghero G, Manera U, Canosa A, Moglia C, Restagno G, Fini N, Tarella C, Giordana MT, Rinaudo MT, Chiò A. De Marco G, et al. Among authors: fini n. Neuropathol Appl Neurobiol. 2017 Feb;43(2):133-153. doi: 10.1111/nan.12328. Epub 2016 Jun 28. Neuropathol Appl Neurobiol. 2017. PMID: 27178390
101 results