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Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis.
Paré B, Lehmann M, Beaudin M, Nordström U, Saikali S, Julien JP, Gilthorpe JD, Marklund SL, Cashman NR, Andersen PM, Forsberg K, Dupré N, Gould P, Brännström T, Gros-Louis F. Paré B, et al. Among authors: marklund sl. Sci Rep. 2018 Sep 21;8(1):14223. doi: 10.1038/s41598-018-31773-z. Sci Rep. 2018. PMID: 30242181 Free PMC article.
A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.
Canosa A, De Marco G, Lomartire A, Rinaudo MT, Di Cunto F, Turco E, Barberis M, Brunetti M, Casale F, Moglia C, Calvo A, Marklund SL, Andersen PM, Mora G, Chiò A. Canosa A, et al. Among authors: marklund sl. Neurobiol Aging. 2018 Dec;72:189.e11-189.e17. doi: 10.1016/j.neurobiolaging.2018.08.014. Epub 2018 Aug 24. Neurobiol Aging. 2018. PMID: 30236613 Free article.
Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.
Keskin I, Birve A, Berdynski M, Hjertkvist K, Rofougaran R, Nilsson TK, Glass JD, Marklund SL, Andersen PM. Keskin I, et al. Among authors: marklund sl. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):457-463. doi: 10.1080/21678421.2017.1301481. Epub 2017 Mar 21. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28325066
264 results