Uusimaa J - Search Results

1

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

2

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Laakkonen H, Lönnqvist T, Uusimaa J, Qvist E, Valanne L, Nuutinen M, Ala-Houhala M, Majamaa K, Jalanko H, Holmberg C. Laakkonen H, et al. Among authors: uusimaa j. Pediatr Nephrol. 2006 Feb;21(2):182-9. doi: 10.1007/s00467-005-2116-1. Epub 2005 Dec 17. Pediatr Nephrol. 2006. PMID: 16362719

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. Among authors: uusimaa j. 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

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: uusimaa j. 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

5

[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity].

Hakonen AH, Isohanni P, Rantamäki M, Kälviäinen R, Nordin A, Uusimaa J, Paetau A, Udd B, Pihko H, Wartiovaara A. Hakonen AH, et al. Among authors: uusimaa j. Duodecim. 2010;126(13):1552-9. Duodecim. 2010. PMID: 20695297 Finnish.

6

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H. Isohanni P, et al. Among authors: uusimaa j. Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25. Neurology. 2011. PMID: 21357833

7

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. Suomalainen A, et al. Among authors: uusimaa j. Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3. Lancet Neurol. 2011. PMID: 21820356 Free PMC article.

8

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.

9

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

10

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.

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