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Results: 1 to 20 of 314

1.

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.

Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T.

Genome Biol. 2011 Sep 28;12(9):R92. doi: 10.1186/gb-2011-12-9-r92.

PMID:
21951382
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

PMID:
19664747
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A.

Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21.

PMID:
21937588
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1125-8.

PMID:
15258213
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
[PubMed - indexed for MEDLINE]
6.

A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Santoro L, Manganelli F, Lanzillo R, Tessa A, Barbieri F, Pierelli F, Di Giacinto G, Nigro V, Santorelli FM.

J Neurol. 2006 Jul;253(7):869-74. Epub 2006 May 24.

PMID:
16715201
[PubMed - indexed for MEDLINE]
7.

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.

J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30.

PMID:
18575922
[PubMed - indexed for MEDLINE]
8.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

PMID:
24727571
[PubMed - indexed for MEDLINE]
9.

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]
10.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.

Neurology. 2003 Apr 22;60(8):1354-6.

PMID:
12707443
[PubMed - indexed for MEDLINE]
11.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

PMID:
23107649
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.

Hong D, Bi H, Yao S, Wang Z, Yuan Y.

Muscle Nerve. 2010 Jan;41(1):92-9. doi: 10.1002/mus.21439.

PMID:
19705478
[PubMed - indexed for MEDLINE]
13.

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

Liu Z, Ding Y, Du A, Zhang B, Zhao G, Ding M.

Mol Vis. 2008;14:1995-2001. Epub 2008 Nov 3.

PMID:
18989381
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. Print 2004.

PMID:
15181170
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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]
16.

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW.

Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. No abstract available.

PMID:
21646632
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.

Tzoulis C, Papingji M, Fiskestrand T, Røste LS, Bindoff LA.

Acta Neurol Scand Suppl. 2009;(189):38-41. doi: 10.1111/j.1600-0404.2009.01212.x.

PMID:
19566497
[PubMed - indexed for MEDLINE]
19.

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

Weiss MD, Saneto RP.

Muscle Nerve. 2010 Jun;41(6):882-5. doi: 10.1002/mus.21636.

PMID:
20513108
[PubMed - indexed for MEDLINE]
20.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW.

Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f.

PMID:
20479361
[PubMed - indexed for MEDLINE]
Free PMC Article

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