Hinttala R - Search Results

1

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari M, Carr L, Hinttala R, Kurian MA, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: hinttala r. Mov Disord Clin Pract. 2024 Jun;11(6):708-715. doi: 10.1002/mdc3.14051. Epub 2024 May 2. Mov Disord Clin Pract. 2024. PMID: 38698576 Free PMC article.

2

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

3

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

4

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.

5

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

6

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

7

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.

8

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.

9

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.

10

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

Komulainen T, Lodge T, Hinttala R, Bolszak M, Pietilä M, Koivunen P, Hakkola J, Poulton J, Morten KJ, Uusimaa J. Komulainen T, et al. Among authors: hinttala r. Toxicology. 2015 May 4;331:47-56. doi: 10.1016/j.tox.2015.03.001. Epub 2015 Mar 5. Toxicology. 2015. PMID: 25745980

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