Suomalainen A - Search Results

1

POLG1 polyglutamine tract variants associated with Parkinson's disease.

Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ. Eerola J, et al. Among authors: suomalainen a. Neurosci Lett. 2010 Jun 14;477(1):1-5. doi: 10.1016/j.neulet.2010.04.021. Epub 2010 Apr 24. Neurosci Lett. 2010. PMID: 20399836 Free PMC article.

2

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN. Wanrooij S, et al. Among authors: suomalainen a. Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. doi: 10.1093/nar/gkh634. Print 2004. Nucleic Acids Res. 2004. PMID: 15181170 Free PMC article.

3

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A. Luoma P, et al. Among authors: suomalainen a. Lancet. 2004 Sep 4-10;364(9437):875-82. doi: 10.1016/S0140-6736(04)16983-3. Lancet. 2004. PMID: 15351195

4

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

Luoma PT, Luo N, Löscher WN, Farr CL, Horvath R, Wanschitz J, Kiechl S, Kaguni LS, Suomalainen A. Luoma PT, et al. Among authors: suomalainen a. Hum Mol Genet. 2005 Jul 15;14(14):1907-20. doi: 10.1093/hmg/ddi196. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917273

5

Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

Melberg A, Nennesmo I, Moslemi AR, Kollberg G, Luoma P, Suomalainen A, Holme E, Oldfors A. Melberg A, et al. Among authors: suomalainen a. Acta Neuropathol. 2005 Sep;110(3):315-6. doi: 10.1007/s00401-005-1047-z. Epub 2005 Jun 25. Acta Neuropathol. 2005. PMID: 15981013 No abstract available.

6

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. Among authors: suomalainen a. 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.

7

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. Among authors: suomalainen a. 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

8

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Euro L, Farnum GA, Palin E, Suomalainen A, Kaguni LS. Euro L, et al. Among authors: suomalainen a. Nucleic Acids Res. 2011 Nov;39(21):9072-84. doi: 10.1093/nar/gkr618. Epub 2011 Aug 8. Nucleic Acids Res. 2011. PMID: 21824913 Free PMC article. Review.

9

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.

Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L. Pasanen P, et al. Among authors: suomalainen a. Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19. Neurobiol Aging. 2017. PMID: 27838048

10

Phosphorylation of Parkin at serine 65 is essential for its activation in vivo.

McWilliams TG, Barini E, Pohjolan-Pirhonen R, Brooks SP, Singh F, Burel S, Balk K, Kumar A, Montava-Garriga L, Prescott AR, Hassoun SM, Mouton-Liger F, Ball G, Hills R, Knebel A, Ulusoy A, Di Monte DA, Tamjar J, Antico O, Fears K, Smith L, Brambilla R, Palin E, Valori M, Eerola-Rautio J, Tienari P, Corti O, Dunnett SB, Ganley IG, Suomalainen A, Muqit MMK. McWilliams TG, et al. Among authors: suomalainen a. Open Biol. 2018 Nov 7;8(11):180108. doi: 10.1098/rsob.180108. Open Biol. 2018. PMID: 30404819 Free PMC article.

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