| FinnGen provides genetic insights from a well-phenotyped isolated population MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, KM Donner, ... Nature 613 (7944), 508-518, 2023 | 794 | 2023 |
| FinnGen: Unique genetic insights from combining isolated population and national health register data MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, K Donner, ... MedRxiv, 2022.03. 03.22271360, 2022 | 354 | 2022 |
| Homozygous W748S mutation in the POLG1 gene in patients with juvenile‐onset Alpers syndrome and status epilepticus J Uusimaa, R Hinttala, H Rantala, M Päivärinta, R Herva, M Röyttä, ... Epilepsia 49 (6), 1038-1045, 2008 | 97 | 2008 |
| Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model T Komulainen, T Lodge, R Hinttala, M Bolszak, M Pietilä, P Koivunen, ... Toxicology 331, 47-56, 2015 | 96 | 2015 |
| Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome C Ugalde, R Hinttala, S Timal, R Smeets, RJT Rodenburg, J Uusimaa, ... Molecular genetics and metabolism 90 (1), 10-14, 2007 | 90 | 2007 |
| Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy CP Diggle, SJS Rizzo, M Popiolek, R Hinttala, JP Schülke, MA Kurian, ... The American Journal of Human Genetics 98 (4), 735-743, 2016 | 75 | 2016 |
| Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation J Hynynen, T Komulainen, E Tukiainen, A Nordin, J Arola, R Kälviäinen, ... Liver Transplantation 20 (11), 1402-1412, 2014 | 61 | 2014 |
| Secondary metabolic effects in complex I deficiency N Esteitie, R Hinttala, R Wibom, H Nilsson, N Hance, K Naess, ... Annals of Neurology: Official Journal of the American Neurological …, 2005 | 60 | 2005 |
| The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I M Kervinen, R Hinttala, HM Helander, S Kurki, J Uusimaa, M Finel, ... Human molecular genetics 15 (17), 2543-2552, 2006 | 52 | 2006 |
| Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene AM Remes, R Hinttala, M Kärppä, H Soini, R Takalo, J Uusimaa, ... Parkinsonism & related disorders 14 (8), 652-654, 2008 | 44 | 2008 |
| Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration J Krüger, R Hinttala, K Majamaa, AM Remes Molecular neurodegeneration 5, 1-6, 2010 | 39 | 2010 |
| Digenic mutations in severe myoclonic epilepsy of infancy M Bolszak, AK Anttonen, T Komulainen, R Hinttala, S Pakanen, ... Epilepsy research 85 (2-3), 300-304, 2009 | 32 | 2009 |
| LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1 J Pätsi, P Maliniemi, S Pakanen, R Hinttala, J Uusimaa, K Majamaa, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1817 (2), 312-318, 2012 | 30 | 2012 |
| Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency R Hinttala, R Smeets, JS Moilanen, C Ugalde, J Uusimaa, JAM Smeitink, ... Journal of medical genetics 43 (11), 881-886, 2006 | 30 | 2006 |
| NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease J Uusimaa, R Kaarteenaho, T Paakkola, H Tuominen, MK Karjalainen, ... Acta neuropathologica 135, 727-742, 2018 | 29 | 2018 |
| Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy R Hinttala, J Uusimaa, AM Remes, H Rantala, IE Hassinen, K Majamaa Journal of molecular medicine 83, 786-794, 2005 | 27 | 2005 |
| An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase R Hinttala, F Sasarman, T Nishimura, H Antonicka, C Brunel-Guitton, ... Human molecular genetics 24 (14), 4103-4113, 2015 | 26 | 2015 |
| Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) E Rahikkala, M Myllykoski, R Hinttala, P Vieira, N Nayebzadeh, S Weiss, ... Genetics in Medicine 21 (10), 2355-2363, 2019 | 25 | 2019 |
| FinnGen: Unique genetic insights from combining isolated population and national health register data. medRxiv 2022 MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, K Donner, ... Google Scholar, 0 | 25 | |
| POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype T Komulainen, R Hinttala, M Kärppä, L Pajunen, S Finnilä, H Tuominen, ... BMC neurology 10, 1-10, 2010 | 24 | 2010 |
