Uusimaa J - Search Results

1

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J. Uusimaa J, et al. Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714749 Free PMC article.

2

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

3

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J. Uusimaa J, et al. J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995. J Med Genet. 2011. PMID: 21931168 Free PMC article.

4

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A. Elo JM, et al. Among authors: uusimaa j. Hum Mol Genet. 2012 Oct 15;21(20):4521-9. doi: 10.1093/hmg/dds294. Epub 2012 Jul 23. Hum Mol Genet. 2012. PMID: 22833457

5

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

Uusimaa J, Gowda V, McShane A, Smith C, Evans J, Shrier A, Narasimhan M, O'Rourke A, Rajabally Y, Hedderly T, Cowan F, Fratter C, Poulton J. Uusimaa J, et al. Epilepsia. 2013 Jun;54(6):1002-11. doi: 10.1111/epi.12115. Epub 2013 Feb 28. Epilepsia. 2013. PMID: 23448099 Free PMC article.

6

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

7

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: uusimaa j. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597

8

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.

Järviaho T, Hurme-Niiranen A, Soini HK, Niinimäki R, Möttönen M, Savolainen ER, Hinttala R, Harila-Saari A, Uusimaa J. Järviaho T, et al. Among authors: uusimaa j. Clin Genet. 2018 Feb;93(2):275-285. doi: 10.1111/cge.13100. Epub 2017 Dec 20. Clin Genet. 2018. PMID: 28708239

9

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B; Thiamine Deficiency Study Group. Ortigoza-Escobar JD, et al. Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30. Ann Neurol. 2017. PMID: 28856750

10

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N. Sofou K, et al. Among authors: uusimaa j. J Med Genet. 2018 Jan;55(1):21-27. doi: 10.1136/jmedgenet-2017-104891. Epub 2017 Nov 3. J Med Genet. 2018. PMID: 29101127

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