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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. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Laser evoked potentials in amyotrophic lateral sclerosis.
Simone IL, Tortelli R, Samarelli V, D'Errico E, Sardaro M, Difruscolo O, Calabrese R, Francesco Vde V, Livrea P, de Tommaso M. Simone IL, et al. J Neurol Sci. 2010 Jan 15;288(1-2):106-11. doi: 10.1016/j.jns.2009.09.023. Epub 2009 Oct 15. J Neurol Sci. 2010. PMID: 19836030
Serum N-acetylaspartate level in amyotrophic lateral sclerosis.
Simone IL, Ruggieri M, Tortelli R, Ceci E, D'Errico E, Leo A, Zoccolella S, Mastrapasqua M, Capozzo R, Livrea P, Logroscino G. Simone IL, et al. Arch Neurol. 2011 Oct;68(10):1308-12. doi: 10.1001/archneurol.2011.217. Arch Neurol. 2011. PMID: 21987545
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.
Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, Simone IL. Tortelli R, et al. Neurobiol Aging. 2013 Jun;34(6):1709.e3-5. doi: 10.1016/j.neurobiolaging.2012.10.027. Epub 2012 Nov 22. Neurobiol Aging. 2013. PMID: 23182243
Cortical thinning and clinical heterogeneity in amyotrophic lateral sclerosis.
Mezzapesa DM, D'Errico E, Tortelli R, Distaso E, Cortese R, Tursi M, Federico F, Zoccolella S, Logroscino G, Dicuonzo F, Simone IL. Mezzapesa DM, et al. PLoS One. 2013 Nov 20;8(11):e80748. doi: 10.1371/journal.pone.0080748. eCollection 2013. PLoS One. 2013. PMID: 24278317 Free PMC article.
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