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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. Thompson K, et al. Among authors: isohanni p. Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693233 Free PMC article.
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: isohanni p. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26. Brain. 2008. PMID: 18819985
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. Isohanni P, et al. J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592391
Dominant encephalopathy mimicking mitochondrial disease.
Lönnqvist T, Isohanni P, Valanne L, Olli-Lähdesmäki T, Suomalainen A, Pihko H. Lönnqvist T, et al. Among authors: isohanni p. Neurology. 2011 Jan 4;76(1):101-3. doi: 10.1212/WNL.0b013e318203e908. Neurology. 2011. PMID: 21205700 No abstract available.
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: isohanni p. 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.
79 results