Uusimaa J - Search Results

1

Status epilepticus in POLG disease: a large multinational study.

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: uusimaa j. J Neurol. 2024 Aug;271(8):5156-5164. doi: 10.1007/s00415-024-12463-5. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822839 Free PMC article.

2

Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.

Löppönen T, Väisänen ML, Luotonen M, Allinen M, Uusimaa J, Lindholm P, Mäki-Torkko E, Väyrynen M, Löppönen H, Leisti J. Löppönen T, et al. Among authors: uusimaa j. Laryngoscope. 2003 Oct;113(10):1758-63. doi: 10.1097/00005537-200310000-00018. Laryngoscope. 2003. PMID: 14520102

3

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.

Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM. Hinttala R, et al. Among authors: uusimaa j. Acta Neuropathol. 2007 Nov;114(5):543-5. doi: 10.1007/s00401-007-0292-8. Epub 2007 Sep 6. Acta Neuropathol. 2007. PMID: 17805552 No abstract available.

4

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ. Diggle CP, et al. Among authors: uusimaa j. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015. Am J Hum Genet. 2016. PMID: 27058446 Free PMC article.

5

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: uusimaa j. Toxicology. 2015 May 4;331:47-56. doi: 10.1016/j.tox.2015.03.001. Epub 2015 Mar 5. Toxicology. 2015. PMID: 25745980

6

A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.

Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, Hassinen IE, Majamaa K. Uusimaa J, et al. Pediatrics. 2003 Mar;111(3):e262-8. doi: 10.1542/peds.111.3.e262. Pediatrics. 2003. PMID: 12612282

7

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: uusimaa j. Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734. Ann Neurol. 2003. PMID: 14595656

8

Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.

Uusimaa J, Finnilä S, Remes AM, Rantala H, Vainionpää L, Hassinen IE, Majamaa K. Uusimaa J, et al. Pediatrics. 2004 Aug;114(2):443-50. doi: 10.1542/peds.114.2.443. Pediatrics. 2004. PMID: 15286228

9

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. Among authors: uusimaa j. 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

10

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: uusimaa j. 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

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