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The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Uusimaa J, et al. Among authors: suomalainen a. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26. Dis Model Mech. 2022. PMID: 36285626 Free PMC article. Review.
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: suomalainen a. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.
Ketogenic diet slows down mitochondrial myopathy progression in mice.
Ahola-Erkkilä S, Carroll CJ, Peltola-Mjösund K, Tulkki V, Mattila I, Seppänen-Laakso T, Oresic M, Tyynismaa H, Suomalainen A. Ahola-Erkkilä S, et al. Among authors: suomalainen a. Hum Mol Genet. 2010 May 15;19(10):1974-84. doi: 10.1093/hmg/ddq076. Epub 2010 Feb 17. Hum Mol Genet. 2010. PMID: 20167576
Mouse models of mtDNA replication diseases.
Tyynismaa H, Suomalainen A. Tyynismaa H, et al. Among authors: suomalainen a. Methods. 2010 Aug;51(4):405-10. doi: 10.1016/j.ymeth.2010.03.009. Epub 2010 Apr 10. Methods. 2010. PMID: 20385238 Review.
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. Among authors: suomalainen a. 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.
252 results