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Page 1
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I. Pelnena D, et al. Among authors: lace b. Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Oct;29(7):1115-1120. doi: 10.1080/24701394.2017.1413365. Epub 2017 Dec 12. Mitochondrial DNA A DNA Mapp Seq Anal. 2018. PMID: 29228836
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: lace b. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Mitochondrial DNA origins of the Latvian clefting population.
Vieira AR, Pliss L, Pelnena I, Krumina A, Baumanis V, Lace B. Vieira AR, et al. Among authors: lace b. Mitochondrion. 2011 Mar;11(2):357-9. doi: 10.1016/j.mito.2010.10.001. Epub 2010 Oct 12. Mitochondrion. 2011. PMID: 20946971
BCL3 gene role in facial morphology.
Lace B, Kempa I, Klovins J, Stavusis J, Krumina A, Akota I, Barkane B, Vieira AR, Nagle E, Grinfelde I, Maulina I. Lace B, et al. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):918-24. doi: 10.1002/bdra.23085. Epub 2012 Nov 1. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 23115114
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Lace B, Inashkina I, Micule I, Vasiljeva I, Naudina MS, Strautmanis J, Stavusis J, Jankevics E. Lace B, et al. Case Rep Neurol Med. 2013;2013:254950. doi: 10.1155/2013/254950. Epub 2013 Aug 19. Case Rep Neurol Med. 2013. PMID: 24024053 Free PMC article.
CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B. Stavusis J, et al. Among authors: lace b. Acta Neurol Scand. 2015 Sep;132(3):185-90. doi: 10.1111/ane.12369. Epub 2015 Jan 28. Acta Neurol Scand. 2015. PMID: 25630502
67 results