Isohanni P - Search Results

1

Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

Suomalainen A, Isohanni P. Suomalainen A, et al. Among authors: isohanni p. Neuromuscul Disord. 2010 Jul;20(7):429-37. doi: 10.1016/j.nmd.2010.03.017. Epub 2010 May 4. Neuromuscul Disord. 2010. PMID: 20444604 Review.

2

A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma.

Hienonen T, Sammalkorpi H, Isohanni P, Versteeg R, Karikoski R, Aaltonen LA. Hienonen T, et al. Among authors: isohanni p. J Med Genet. 2005 Jan;42(1):e3. doi: 10.1136/jmg.2004.022814. J Med Genet. 2005. PMID: 15635065 Free PMC article. No abstract available.

3

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Hakonen AH, et al. Among authors: isohanni p. Brain. 2007 Nov;130(Pt 11):3032-40. doi: 10.1093/brain/awm242. Epub 2007 Oct 5. Brain. 2007. PMID: 17921179

4

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

5

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

6

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

7

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.

8

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

9

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.

10

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A. Tyynismaa H, et al. Among authors: isohanni p. Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21. Hum Mol Genet. 2012. PMID: 21937588

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