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Results: 1 to 20 of 79

1.

Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

Verhoeven WM, Egger JI, Kremer BP, de Pont BJ, Marcelis CL.

Neuropsychiatr Dis Treat. 2011;7:293-6. doi: 10.2147/NDT.S20153. Epub 2011 May 15.

PMID:
21654874
[PubMed]
Free PMC Article
2.

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.

Neurology. 2004 Oct 12;63(7):1251-7.

PMID:
15477547
[PubMed - indexed for MEDLINE]
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.

Lancet. 2004 Sep 4-10;364(9437):875-82.

PMID:
15351195
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
16080118
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PMID:
21880868
[PubMed - indexed for MEDLINE]
6.

Polymerase gamma disease through the ages.

Saneto RP, Naviaux RK.

Dev Disabil Res Rev. 2010 Jun;16(2):163-74. doi: 10.1002/ddrr.105. Review.

PMID:
20818731
[PubMed - indexed for MEDLINE]
7.

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

Habek M, Barun B, Adamec I, Mitrović Z, Ozretić D, Brinar VV.

Neurologist. 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6.

PMID:
22931735
[PubMed - indexed for MEDLINE]
8.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C.

Neuromuscul Disord. 2003 Feb;13(2):133-42.

PMID:
12565911
[PubMed - indexed for MEDLINE]
9.

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.

Neurology. 2005 Apr 12;64(7):1204-8.

PMID:
15824347
[PubMed - indexed for MEDLINE]
10.

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.

Hum Mol Genet. 2005 Jul 15;14(14):1907-20. Epub 2005 May 25.

PMID:
15917273
[PubMed - indexed for MEDLINE]
Free Article
11.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.

Arch Neurol. 2006 Jan;63(1):107-11.

PMID:
16401742
[PubMed - indexed for MEDLINE]
12.

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ.

J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.

PMID:
19578034
[PubMed - indexed for MEDLINE]
13.

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.

Hum Mutat. 2003 Dec;22(6):498-9.

PMID:
14635118
[PubMed - indexed for MEDLINE]
14.

Consequences of mutations in human DNA polymerase gamma.

Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.

Gene. 2005 Jul 18;354:125-31. Review.

PMID:
15913923
[PubMed - indexed for MEDLINE]
15.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.

Eur J Hum Genet. 2006 Aug;14(8):917-22. Epub 2006 Apr 26. Erratum in: Eur J Hum Genet. 2007 May;15(5):607. Simon, Melvin [corrected to Simon, Mariella].

PMID:
16639411
[PubMed - indexed for MEDLINE]
Free Article
16.

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.

Eur J Hum Genet. 2003 Jul;11(7):547-9.

PMID:
12825077
[PubMed - indexed for MEDLINE]
Free Article
17.

Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Synofzik M, Srulijes K, Godau J, Berg D, Schöls L.

Cerebellum. 2012 Dec;11(4):1002-11. doi: 10.1007/s12311-012-0378-2.

PMID:
22528963
[PubMed - indexed for MEDLINE]
18.

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S.

Arch Neurol. 2003 Sep;60(9):1279-84.

PMID:
12975295
[PubMed - indexed for MEDLINE]
19.

POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.

Schicks J, Synofzik M, Schulte C, Schöls L.

Mov Disord. 2010 Nov 15;25(15):2678-82. doi: 10.1002/mds.23286.

PMID:
20803511
[PubMed - indexed for MEDLINE]
20.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP.

J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31.

PMID:
16055927
[PubMed - indexed for MEDLINE]
Free PMC Article

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