Hakonen AH - Search Results

1

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.

2

Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.

Hietala M, Hakonen A, Aro AR, Niemelä P, Peltonen L, Aula P. Hietala M, et al. Am J Hum Genet. 1995 Jun;56(6):1493-500. Am J Hum Genet. 1995. PMID: 7762573 Free PMC article.

3

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A. Hakonen AH, et al. Eur J Hum Genet. 2007 Jul;15(7):779-83. doi: 10.1038/sj.ejhg.5201831. Epub 2007 Apr 11. Eur J Hum Genet. 2007. PMID: 17426723

4

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellström O, Kivistö KT, Tienari PJ, Suomalainen A. Luoma PT, et al. Among authors: hakonen ah. Neurology. 2007 Sep 11;69(11):1152-9. doi: 10.1212/01.wnl.0000276955.23735.eb. Neurology. 2007. PMID: 17846414

5

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. Brain. 2007 Nov;130(Pt 11):3032-40. doi: 10.1093/brain/awm242. Epub 2007 Oct 5. Brain. 2007. PMID: 17921179

6

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A. Hakonen AH, et al. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775955

7

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

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. Among authors: hakonen ah. 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: hakonen ah. 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

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

Palin EJ, Hakonen AH, Korpela M, Paetau A, Suomalainen A. Palin EJ, et al. Among authors: hakonen ah. J Neurol Sci. 2012 Apr 15;315(1-2):160-3. doi: 10.1016/j.jns.2011.11.028. Epub 2011 Dec 12. J Neurol Sci. 2012. PMID: 22166854

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