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Henna Tyynismaa
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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
3922011
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
3392005
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 (9), 1-18, 2011
3122011
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
2892010
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
2712004
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
2612011
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
2392012
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
2082016
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
1962010
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
1952002
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
1812012
Mitochondrial aminoacyl-tRNA synthetases in human disease
S Konovalova, H Tyynismaa
Molecular Genetics and Metabolism 108 (4), 206-211, 2013
1472013
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
1422009
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
1412010
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
1352009
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
1332009
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
1102015
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
1092015
Mouse models of mitochondrial DNA defects and their relevance for human disease
H Tyynismaa, A Suomalainen
EMBO reports 10 (2), 137-143, 2009
1042009
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
1022013
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