Luoma PT - 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. Among authors: luoma pt. 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

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. 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

3

Do carriers of POLG mutation W748S have disease manifestations?

Rantamäki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B. Rantamäki M, et al. Clin Genet. 2007 Dec;72(6):532-7. doi: 10.1111/j.1399-0004.2007.00908.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894835

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. Neurology. 2007 Sep 11;69(11):1152-9. doi: 10.1212/01.wnl.0000276955.23735.eb. Neurology. 2007. PMID: 17846414

5

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. Lancet. 2004 Sep 4-10;364(9437):875-82. doi: 10.1016/S0140-6736(04)16983-3. Lancet. 2004. PMID: 15351195

6

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. Van Goethem G, et al. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547

7

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: luoma pt. 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.

8

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. 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.

9

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. 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.

10

Two families with autosomal dominant progressive external ophthalmoplegia.

Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J. Kiechl S, et al. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1125-8. doi: 10.1136/jnnp.2003.025890. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258213 Free PMC article.

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