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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, Anderlid BM, Hammarsjö A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Ek M, et al. Among authors: sejersen t. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P. Goudeau B, et al. Among authors: sejersen t. Hum Mutat. 2006 Sep;27(9):906-13. doi: 10.1002/humu.20351. Hum Mutat. 2006. PMID: 16865695
cDNA cloning and chromosomal localization of human alpha(11) integrin. A collagen-binding, I domain-containing, beta(1)-associated integrin alpha-chain present in muscle tissues.
Velling T, Kusche-Gullberg M, Sejersen T, Gullberg D. Velling T, et al. Among authors: sejersen t. J Biol Chem. 1999 Sep 3;274(36):25735-42. doi: 10.1074/jbc.274.36.25735. J Biol Chem. 1999. PMID: 10464311 Free article.
We previously identified a novel integrin alpha-chain in human fetal muscle cells (Gullberg, D., Velling, T., Sjoberg, G., and Sejersen, T. (1995) Dev. Dyn. 204, 57-65). ...
We previously identified a novel integrin alpha-chain in human fetal muscle cells (Gullberg, D., Velling, T., Sjoberg, G., and Sej …
132 results