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Items: 11

1.

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

Buzkova J, Nikkanen J, Ahola S, Hakonen AH, Sevastianova K, Hovinen T, Yki-Järvinen H, Pietiläinen KH, Lönnqvist T, Velagapudi V, Carroll CJ, Suomalainen A.

EMBO Mol Med. 2018 Dec;10(12). pii: e9091. doi: 10.15252/emmm.201809091.

2.

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Esterhuizen K, Lindeque JZ, Mason S, van der Westhuizen FH, Suomalainen A, Hakonen AH, Carroll CJ, Rodenburg RJ, de Laat PB, Janssen MCH, Smeitink JAM, Louw R.

Mitochondrion. 2018 Feb 19. pii: S1567-7249(17)30237-4. doi: 10.1016/j.mito.2018.02.003. [Epub ahead of print]

PMID:
29471047
3.

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

Palin EJ, Hakonen AH, Korpela M, Paetau A, Suomalainen A.

J Neurol Sci. 2012 Apr 15;315(1-2):160-3. doi: 10.1016/j.jns.2011.11.028. Epub 2011 Dec 12.

PMID:
22166854
4.

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.

Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3.

PMID:
21820356
5.

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.

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

PMID:
21357833
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.

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

PMID:
20695297
7.

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.

Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5.

PMID:
18775955
8.

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T.

Brain. 2007 Nov;130(Pt 11):3032-40. Epub 2007 Oct 5.

PMID:
17921179
9.

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.

Neurology. 2007 Sep 11;69(11):1152-9.

PMID:
17846414
10.

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.

Eur J Hum Genet. 2007 Jul;15(7):779-83. Epub 2007 Apr 11.

11.

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.

Am J Hum Genet. 2005 Sep;77(3):430-41. Epub 2005 Jul 27.

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