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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: zinman l. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.
Xiao S, Sato C, Kawarai T, Goodall EF, Pall HS, Zinman LH, Robertson J, Morrison K, Rogaeva E. Xiao S, et al. Neurobiol Aging. 2008 Aug;29(8):1279-82. doi: 10.1016/j.neurobiolaging.2007.02.022. Epub 2007 Mar 23. Neurobiol Aging. 2008. PMID: 17383054
A novel double mutation in FUS gene causing sporadic ALS.
Robertson J, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E. Robertson J, et al. Among authors: zinman l. Neurobiol Aging. 2011 Mar;32(3):553.e27-30. doi: 10.1016/j.neurobiolaging.2010.05.015. Epub 2010 Jun 18. Neurobiol Aging. 2011. PMID: 20561714
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.
Xiao S, Sanelli T, Dib S, Sheps D, Findlater J, Bilbao J, Keith J, Zinman L, Rogaeva E, Robertson J. Xiao S, et al. Among authors: zinman l. Mol Cell Neurosci. 2011 Jul;47(3):167-80. doi: 10.1016/j.mcn.2011.02.013. Epub 2011 Mar 21. Mol Cell Neurosci. 2011. PMID: 21421050
258 results