| FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ... The Lancet Neurology 10 (9), 806-818, 2011 | 461 | 2011 |
| Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice H Tyynismaa, KP Mjosund, S Wanrooij, I Lappalainen, E Ylikallio, ... Proceedings of the National Academy of Sciences 102 (49), 17687-17692, 2005 | 370 | 2005 |
| Mitochondrial myopathy induces a starvation-like response H Tyynismaa, CJ Carroll, N Raimundo, S Ahola-Erkkilä, T Wenz, ... Human molecular genetics 19 (20), 3948-3958, 2010 | 330 | 2010 |
| Comparison of solution-based exome capture methods for next generation sequencing AM Sulonen, P Ellonen, H Almusa, M Lepistö, S Eldfors, S Hannula, ... Genome biology 12, 1-18, 2011 | 328 | 2011 |
| Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number H Tyynismaa, H Sembongi, M Bokori-Brown, C Granycome, N Ashley, ... Human molecular genetics 13 (24), 3219-3227, 2004 | 290 | 2004 |
| Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy A Götz, H Tyynismaa, L Euro, P Ellonen, T Hyötyläinen, T Ojala, ... The American Journal of Human Genetics 88 (5), 635-642, 2011 | 283 | 2011 |
| Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice KJ Ahlqvist, RH Hämäläinen, S Yatsuga, M Uutela, M Terzioglu, A Götz, ... Cell metabolism 15 (1), 100-109, 2012 | 261 | 2012 |
| Mitochondrial DNA replication defects disturb cellular dNTP pools and remodel one-carbon metabolism J Nikkanen, S Forsström, L Euro, I Paetau, RA Kohnz, L Wang, D Chilov, ... Cell metabolism 23 (4), 635-648, 2016 | 256 | 2016 |
| Ketogenic diet slows down mitochondrial myopathy progression in mice S Ahola-Erkkilä, CJ Carroll, K Peltola-Mjösund, V Tulkki, I Mattila, ... Human molecular genetics 19 (10), 1974-1984, 2010 | 217 | 2010 |
| A locus for autosomal dominant keratoconus: linkage to 16q22. 3-q23. 1 in Finnish families H Tyynismaa, P Sistonen, S Tuupanen, T Tervo, A Dammert, T Latvala, ... Investigative ophthalmology & visual science 43 (10), 3160-3164, 2002 | 208 | 2002 |
| Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy JM Elo, SS Yadavalli, L Euro, P Isohanni, A Götz, CJ Carroll, L Valanne, ... Human molecular genetics 21 (20), 4521-4529, 2012 | 196 | 2012 |
| Mitochondrial aminoacyl-tRNA synthetases in human disease S Konovalova, H Tyynismaa Molecular Genetics and Metabolism 108 (4), 206-211, 2013 | 165 | 2013 |
| High mitochondrial DNA copy number has detrimental effects in mice E Ylikallio, H Tyynismaa, H Tsutsui, T Ide, A Suomalainen Human molecular genetics 19 (13), 2695-2705, 2010 | 152 | 2010 |
| Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA … S Goffart, HM Cooper, H Tyynismaa, S Wanrooij, A Suomalainen, ... Human molecular genetics 18 (2), 328-340, 2009 | 150 | 2009 |
| Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks JLO Pohjoismäki, S Goffart, H Tyynismaa, S Willcox, T Ide, D Kang, ... Journal of biological chemistry 284 (32), 21446-21457, 2009 | 143 | 2009 |
| A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions H Tyynismaa, E Ylikallio, M Patel, MJ Molnar, RG Haller, A Suomalainen The American Journal of Human Genetics 85 (2), 290-295, 2009 | 142 | 2009 |
| Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress M Ikeda, T Ide, T Fujino, S Arai, K Saku, T Kakino, H Tyynismaa, ... PloS one 10 (3), e0119687, 2015 | 137 | 2015 |
| De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy JR Lee, M Srour, D Kim, FF Hamdan, SH Lim, C Brunel‐Guitton, ... Human mutation 36 (1), 69-78, 2015 | 135 | 2015 |
| Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions H Tyynismaa, R Sun, S Ahola-Erkkilä, H Almusa, R Pöyhönen, M Korpela, ... Human molecular genetics 21 (1), 66-75, 2012 | 110 | 2012 |
| Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy CJ Carroll, P Isohanni, R Pöyhönen, L Euro, U Richter, V Brilhante, A Götz, ... Journal of medical genetics 50 (3), 151-159, 2013 | 109 | 2013 |
