Hinttala R - Search Results

1

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Uusimaa J, et al. Among authors: hinttala r. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26. Dis Model Mech. 2022. PMID: 36285626 Free PMC article. Review.

2

INFRAFRONTIER quality principles in systemic phenotyping.

Ehlich H, Cater HL, Flenniken AM, Goncalves Da Cruz I, Mura AM, Ntafis V, Raess M, Selloum M, Stoeger C, Suchanova S, Vuolteenaho R, Brown SDM, Hérault Y, Hinttala R, Hrabě de Angelis M, Kollias G, Kontoyiannis DL, Malissen B, McKerlie C, Sedláček R, Wells SE, Zarubica A, Rozman J, Sorg T. Ehlich H, et al. Among authors: hinttala r. Mamm Genome. 2022 Mar;33(1):120-122. doi: 10.1007/s00335-021-09892-2. Epub 2021 Jul 30. Mamm Genome. 2022. PMID: 34328547 Free PMC article. Review.

3

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Hinttala R, Uusimaa J, Remes AM, Rantala H, Hassinen IE, Majamaa K. Hinttala R, et al. J Mol Med (Berl). 2005 Oct;83(10):786-94. doi: 10.1007/s00109-005-0712-y. Epub 2005 Sep 3. J Mol Med (Berl). 2005. PMID: 16142472

4

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Kervinen M, Hinttala R, Helander HM, Kurki S, Uusimaa J, Finel M, Majamaa K, Hassinen IE. Kervinen M, et al. Among authors: hinttala r. Hum Mol Genet. 2006 Sep 1;15(17):2543-52. doi: 10.1093/hmg/ddl176. Epub 2006 Jul 18. Hum Mol Genet. 2006. PMID: 16849371

5

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K. Uusimaa J, et al. Among authors: hinttala r. Epilepsia. 2008 Jun;49(6):1038-45. doi: 10.1111/j.1528-1167.2008.01544.x. Epub 2008 Feb 20. Epilepsia. 2008. PMID: 18294203 Free article.

6

Digenic mutations in severe myoclonic epilepsy of infancy.

Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J. Bolszak M, et al. Among authors: hinttala r. Epilepsy Res. 2009 Aug;85(2-3):300-4. doi: 10.1016/j.eplepsyres.2009.03.004. Epub 2009 Apr 9. Epilepsy Res. 2009. PMID: 19359143

7

Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli.

Hinttala R, Kervinen M, Uusimaa J, Maliniemi P, Finnilä S, Rantala H, Remes AM, Hassinen IE, Majamaa K. Hinttala R, et al. Mitochondrion. 2010 Jun;10(4):358-61. doi: 10.1016/j.mito.2010.02.002. Epub 2010 Mar 1. Mitochondrion. 2010. PMID: 20197120

8

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J. Komulainen T, et al. Among authors: hinttala r. BMC Neurol. 2010 May 3;10:29. doi: 10.1186/1471-2377-10-29. BMC Neurol. 2010. PMID: 20438629 Free PMC article.

9

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

Pätsi J, Maliniemi P, Pakanen S, Hinttala R, Uusimaa J, Majamaa K, Nyström T, Kervinen M, Hassinen IE. Pätsi J, et al. Among authors: hinttala r. Biochim Biophys Acta. 2012 Feb;1817(2):312-8. doi: 10.1016/j.bbabio.2011.10.014. Epub 2011 Nov 4. Biochim Biophys Acta. 2012. PMID: 22079202 Free article.

10

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

Hynynen J, Komulainen T, Tukiainen E, Nordin A, Arola J, Kälviäinen R, Jutila L, Röyttä M, Hinttala R, Majamaa K, Mäkisalo H, Uusimaa J. Hynynen J, et al. Among authors: hinttala r. Liver Transpl. 2014 Nov;20(11):1402-12. doi: 10.1002/lt.23965. Epub 2014 Oct 3. Liver Transpl. 2014. PMID: 25065347 Free article.

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