Hinttala R - Search Results

1

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: hinttala r. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199

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

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K. Hinttala R, et al. J Med Genet. 2006 Nov;43(11):881-6. doi: 10.1136/jmg.2006.042168. Epub 2006 May 31. J Med Genet. 2006. PMID: 16738010 Free PMC article.

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

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA. Ugalde C, et al. Among authors: hinttala r. Mol Genet Metab. 2007 Jan;90(1):10-4. doi: 10.1016/j.ymgme.2006.08.003. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996290

6

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.

7

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

Remes AM, Hinttala R, Kärppä M, Soini H, Takalo R, Uusimaa J, Majamaa K. Remes AM, et al. Among authors: hinttala r. Parkinsonism Relat Disord. 2008 Dec;14(8):652-4. doi: 10.1016/j.parkreldis.2008.01.009. Epub 2008 Mar 5. Parkinsonism Relat Disord. 2008. PMID: 18321754

8

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

9

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

10

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.

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