Pihko H - Search Results

1

[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: pihko h. Duodecim. 2010;126(13):1552-9. Duodecim. 2010. PMID: 20695297 Finnish.

2

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Götz A, et al. Among authors: pihko h. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26. Brain. 2008. PMID: 18819985

3

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: pihko h. 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

4

Recessive twinkle mutations cause severe epileptic encephalopathy.

Lönnqvist T, Paetau A, Valanne L, Pihko H. Lönnqvist T, et al. Among authors: pihko h. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20. Brain. 2009. PMID: 19304794

5

A juvenile case of MELAS with T3271C mitochondrial DNA mutation.

Stenqvist L, Paetau A, Valanne L, Suomalainen A, Pihko H. Stenqvist L, et al. Among authors: pihko h. Pediatr Res. 2005 Aug;58(2):258-62. doi: 10.1203/01.PDR.0000169966.82325.1A. Epub 2005 Jul 8. Pediatr Res. 2005. PMID: 16006433

6

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, Lönnqvist T, Lehtonen T, Laine J, Tyynismaa H, Suomalainen A. Ahola S, et al. Among authors: pihko h. Neurology. 2014 Aug 19;83(8):743-51. doi: 10.1212/WNL.0000000000000716. Epub 2014 Jul 18. Neurology. 2014. PMID: 25037205 Free PMC article.

7

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: pihko h. Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25. Neurology. 2011. PMID: 21357833

8

[Respiratory arrests caused by congenital myasthenia gravis syndrome].

Byring RF, Ohno K, Pihko H, Gustafsson B, Hackman P, Engel A, Udd B. Byring RF, et al. Among authors: pihko h. Duodecim. 2002;118(22):2323-6. Duodecim. 2002. PMID: 12523110 Finnish. No abstract available.

9

[Investments of research and treatment of brain diseases will pay of time].

Lindsberg PJ, Castrén E, Korkeila J, Alho H, Erkinjuntti T, Isometsä E, Kalso E, Marttunen M, Pihko H, Tienari P, Wartiovaara A, Jäkälä P, Kälviäinen R, Soininen H, Tiihonen J, Karlsson H, Rinne J, Roine RO, Elovaara I, Tamminen T, Ohman J, Majamaa K, Hari R. Lindsberg PJ, et al. Among authors: pihko h. Duodecim. 2014;130(17):1721-30. Duodecim. 2014. PMID: 25272783 Review. Finnish.

10

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A. Carroll CJ, et al. Among authors: pihko h. J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315540

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