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1.

Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.

Ylönen S, Ylikotila P, Siitonen A, Finnilä S, Autere J, Majamaa K.

J Neurol. 2013 Dec;260(12):3144-9.

PMID:
24122062
2.

Variations of the CAG trinucleotide repeat in DNA polymerase γ (POLG1) is associated with Parkinson's disease in Sweden.

Anvret A, Westerlund M, Sydow O, Willows T, Lind C, Galter D, Belin AC.

Neurosci Lett. 2010 Nov 19;485(2):117-20. doi: 10.1016/j.neulet.2010.08.082. Epub 2010 Sep 6.

PMID:
20826197
3.

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.

Neurosci Lett. 2010 Jun 14;477(1):1-5. doi: 10.1016/j.neulet.2010.04.021. Epub 2010 Apr 24.

4.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Tang S, Dimberg EL, Milone M, Wong LJ.

J Neurol. 2012 May;259(5):862-8. doi: 10.1007/s00415-011-6268-6. Epub 2011 Oct 13.

PMID:
21993618
5.

Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations.

Gui YX, Xu ZP, Lv W, Liu HM, Zhao JJ, Hu XY.

PLoS One. 2012;7(12):e50086. doi: 10.1371/journal.pone.0050086. Epub 2012 Dec 10.

6.

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
7.

Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.

Gui YX, Xu ZP, Lv W, Zhao JJ, Hu XY.

Parkinsonism Relat Disord. 2015 Mar;21(3):282-6. doi: 10.1016/j.parkreldis.2014.12.030. Epub 2015 Jan 6.

PMID:
25585994
8.

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M.

Neuromuscul Disord. 2008 Jun;18(6):460-4. doi: 10.1016/j.nmd.2008.04.005. Epub 2008 May 27.

PMID:
18502641
9.

Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.

Mukai M, Sugaya K, Yabe I, Goto Y, Yokochi F, Miyamoto K, Cai H, Sasaki H, Matsubara S.

Parkinsonism Relat Disord. 2013 Sep;19(9):821-4. doi: 10.1016/j.parkreldis.2013.04.011. Epub 2013 May 11.

PMID:
23673011
10.

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J.

BMC Neurol. 2010 May 3;10:29. doi: 10.1186/1471-2377-10-29.

11.

Polymerase gamma 1 mutations: clinical correlations.

Milone M, Massie R.

Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.

PMID:
20220442
12.

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.

Ann Neurol. 2002 Aug;52(2):211-9.

PMID:
12210792
13.

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

14.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.

J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180.

PMID:
19251978
15.

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J.

Hum Mol Genet. 2008 Aug 15;17(16):2496-506. doi: 10.1093/hmg/ddn150. Epub 2008 May 16. Erratum in: Hum Mol Genet. 2009 Dec 15;18(24):4905-6.

16.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

17.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF.

Arch Neurol. 2007 Apr;64(4):553-7.

PMID:
17420318
18.

Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.

Lee YC, Lu YC, Chang MH, Soong BW.

J Neurol Sci. 2007 Mar 15;254(1-2):65-8. Epub 2007 Feb 14.

PMID:
17300808
19.

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Deng H, Le WD, Hunter CB, Ondo WG, Guo Y, Xie WJ, Jankovic J.

Arch Neurol. 2006 Feb;63(2):273-7.

PMID:
16476817
20.

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK.

PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.

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