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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: tranquilli s. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.
Pitzalis M, Zavattari P, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, Cucca F. Pitzalis M, et al. Among authors: tranquilli s. BMC Med Genet. 2008 Jan 20;9:3. doi: 10.1186/1471-2350-9-3. BMC Med Genet. 2008. PMID: 18205952 Free PMC article.
Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.
Floris G, Cannas A, Solla P, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Sardu C, Marrosu F, Marrosu MG. Floris G, et al. Among authors: tranquilli s. Parkinsonism Relat Disord. 2009 May;15(4):277-80. doi: 10.1016/j.parkreldis.2008.06.009. Epub 2008 Sep 20. Parkinsonism Relat Disord. 2009. PMID: 18805725
Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles.
Cocco E, Meloni A, Murru MR, Corongiu D, Tranquilli S, Fadda E, Murru R, Schirru L, Secci MA, Costa G, Asunis I, Cuccu S, Fenu G, Lorefice L, Carboni N, Mura G, Rosatelli MC, Marrosu MG. Cocco E, et al. Among authors: tranquilli s. PLoS One. 2012;7(7):e41678. doi: 10.1371/journal.pone.0041678. Epub 2012 Jul 25. PLoS One. 2012. PMID: 22848563 Free PMC article.
43 results