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Mitochondrion|February 23, 2018
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.Human Genetics|April 9, 2021
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegenerationMarjo K Hytönen, Riika Sarviaho, Christopher B Jackson, et al.Cell Metabolism|January 10, 2012
Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator miceKati J Ahlqvist, Riikka H Hämäläinen, Shuichi Yatsuga, et al.Journal of the American College of Cardiology|November 3, 2018
Genetic Basis of Severe Childhood-Onset CardiomyopathiesCatalina Vasilescu, Tiina H Ojala, Virginia Brilhante, et al.American Journal of Human Genetics|August 5, 2005
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originAnna H Hakonen, Silja Heiskanen, Vesa Juvonen, et al.Disease Models & Mechanisms|October 26, 2022
The Finnish genetic heritage in 2022 - from diagnosis to translational researchJohanna Uusimaa, Johannes Kettunen, Teppo Varilo, et al.Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.Nature|April 3, 2024
Ancestral allele of DNA polymerase gamma modifies antiviral toleranceYilin Kang, Jussi Hepojoki, Rocio Sartori Maldonado, et al.Cell Metabolism|May 11, 2020
Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial MyopathyEija Pirinen, Mari Auranen, Nahid A Khan, et al.Neurobiology of Aging|November 14, 2016
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish populationPetra Pasanen, Eino Palin, Risto Pohjolan-Pirhonen, et al.Pageof 16