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Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B, Micule I, Kenina V, Setlere S, Strautmanis J, Kazaine I, Taurina G, Murmane D, Grinfelde I, Kornejeva L, Krumina Z, Sterna O, Radovica-Spalvina I, Vasiljeva I, Gailite L, Stavusis J, Livcane D, Kidere D, Malniece I, Inashkina I. Lace B, et al. Among authors: stavusis j. Neurol Genet. 2022 May 16;8(3):e685. doi: 10.1212/NXG.0000000000000685. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 36381256 Free PMC article.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: stavusis j. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I. Micule I, et al. Among authors: stavusis j. Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022. Front Genet. 2022. PMID: 35222531 Free PMC article.
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.
Geist Hauserman J, Stavusis J, Joca HC, Robinett JC, Hanft L, Vandermeulen J, Zhao R, Stains JP, Konstantopoulos K, McDonald KS, Ward C, Kontrogianni-Konstantopoulos A. Geist Hauserman J, et al. Among authors: stavusis j. JCI Insight. 2021 Oct 8;6(19):e147612. doi: 10.1172/jci.insight.147612. JCI Insight. 2021. PMID: 34437302 Free PMC article.
21 results