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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A. Götz A, et al. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549344 Free PMC article.
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A. Carroll CJ, et al. Among authors: gotz a. J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315540
Do mitochondrial mutations cause recurrent miscarriage?
Kaare M, Götz A, Ulander VM, Ariansen S, Kaaja R, Suomalainen A, Aittomäki K. Kaare M, et al. Among authors: gotz a. Mol Hum Reprod. 2009 May;15(5):295-300. doi: 10.1093/molehr/gap021. Epub 2009 Mar 18. Mol Hum Reprod. 2009. PMID: 19297417
Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice.
Ahlqvist KJ, Hämäläinen RH, Yatsuga S, Uutela M, Terzioglu M, Götz A, Forsström S, Salven P, Angers-Loustau A, Kopra OH, Tyynismaa H, Larsson NG, Wartiovaara K, Prolla T, Trifunovic A, Suomalainen A. Ahlqvist KJ, et al. Among authors: gotz a. Cell Metab. 2012 Jan 4;15(1):100-9. doi: 10.1016/j.cmet.2011.11.012. Cell Metab. 2012. PMID: 22225879 Free article.
Management of Bilateral Congenital and Juvenile Cataracts in a Low-Income Country: Patient Identification, Treatment Outcomes, and Follow Up.
Poschkamp B, Dinkulu S, Stahnke T, Böckermann C, Mukwanseke E, Paschke C, Hopkins A, Duerksen R, Steinau EC, Stahl A, Götz A, Guthoff R, Kilangalanga NJ. Poschkamp B, et al. Among authors: gotz a. Children (Basel). 2024 Aug 30;11(9):1064. doi: 10.3390/children11091064. Children (Basel). 2024. PMID: 39334598 Free PMC article.
276 results