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American Journal of Human Genetics|September 7, 2002
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1LIlona Visapää, Vineta Fellman, Jouni Vesa, et al.Diabetes|May 15, 2015
Impaired Mitochondrial Biogenesis in Adipose Tissue in Acquired ObesitySini Heinonen, Jana Buzkova, Maheswary Muniandy, et al.The Lancet. Neurology|June 19, 2021
Mitochondrial disease in adults: recent advances and future promiseYi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, et al.Cell Metabolism|December 5, 2015
Women in Metabolism: Part 3Frances Ashcroft, Erika Pearce, Linda Partridge, et al.Stem Cell Reports|July 30, 2021
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCsFlavia Palombo, Camille Peron, Leonardo Caporali, et al.American Journal of Human Genetics|May 10, 2011
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyAlexandra Götz, Henna Tyynismaa, Liliya Euro, et al.Human Molecular Genetics|July 27, 2010
Mitochondrial myopathy induces a starvation-like responseHenna Tyynismaa, Christopher J Carroll, Nuno Raimundo, et al.Human Molecular Genetics|July 27, 2012
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathyJenni M Elo, Srujana S Yadavalli, Liliya Euro, et al.Brain : a Journal of Neurology|December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.Journal of Neurology|November 15, 2015
Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient populationTurgut Tatlisumak, Jukka Putaala, Markus Innilä, et al.Pageof 16