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Pediatric Research|July 12, 2005
A juvenile case of MELAS with T3271C mitochondrial DNA mutationLaura Stenqvist, Anders Paetau, Leena Valanne, et al.
Human Molecular Genetics|April 24, 2010
High mitochondrial DNA copy number has detrimental effects in miceEmil Ylikallio, Henna Tyynismaa, Hiroyuki Tsutsui, et al.
The Journal of Clinical Investigation|January 3, 2020
Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseasesSofia Khan, Gulayse Ince-Dunn, Anu Suomalainen, et al.
Life Sciences|February 20, 2025
Heightened sensitivity to adverse effects of metformin in mtDNA mutant patient cellsSanna Ryytty, Katriina Nurminen, Petri Mäkinen, et al.
Nucleic Acids Research|August 10, 2011
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γLiliya Euro, Gregory A Farnum, Eino Palin, et al.
Biochemistry|February 17, 2017
Atomistic Molecular Dynamics Simulations of Mitochondrial DNA Polymerase γ: Novel Mechanisms of Function and PathogenesisLiliya Euro, Outi Haapanen, Tomasz Róg, et al.
Journal of the Neurological Sciences|December 15, 2011
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxiaEino J H Palin, Anna H Hakonen, Mari Korpela, et al.
Brain : a Journal of Neurology|October 9, 2007
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletionAnna H Hakonen, Pirjo Isohanni, Anders Paetau, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathyCatalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 5, 2013
Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease modelRiikka H Hämäläinen, Tuula Manninen, Hanna Koivumäki, et al.
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