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Life Science Alliance|August 2, 2020
Mitochondrial spongiotic brain disease: astrocytic stress and harmful rapamycin and ketosis effectOlesia Ignatenko, Joni Nikkanen, Alexander Kononov, et al.
American Journal of Human Genetics|August 12, 2009
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletionsHenna Tyynismaa, Emil Ylikallio, Mehul Patel, et al.
Neurogenetics|January 20, 2018
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growthPirjo Isohanni, Christopher J Carroll, Christopher B Jackson, et al.
Life Science Alliance|September 1, 2023
Alternative oxidase causes cell type- and tissue-specific responses in mutator miceLilli Ikonen, Sini Pirnes-Karhu, Swagat Pradhan, et al.
Pediatric Research|August 10, 2023
Genetic etiology of progressive pediatric neurological disordersJuho Aaltio, Anna Etula, Simo Ojanen, et al.
Human Molecular Genetics|October 31, 2008
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingSteffi Goffart, Helen M Cooper, Henna Tyynismaa, et al.
Human Molecular Genetics|September 2, 2005
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and TwinkyKaisu Nikali, Anu Suomalainen, Juha Saharinen, et al.
Molecular Human Reproduction|March 20, 2009
Do mitochondrial mutations cause recurrent miscarriage?Milja Kaare, Alexandra Götz, Veli-Matti Ulander, et al.
Nucleic Acids Research|June 8, 2004
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNASjoerd Wanrooij, Petri Luoma, Gert van Goethem, et al.
Biochimica Et Biophysica Acta|February 16, 2010
Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143GEino J H Palin, Annamari Lesonen, Carol L Farr, et al.
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