294 related articles for article (PubMed ID: 19664747)
1. 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. PubMed ID: 19664747
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 12094562
[TBL] [Abstract][Full Text] [Related]
3. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Bourdon A; Minai L; Serre V; Jais JP; Sarzi E; Aubert S; Chrétien D; de Lonlay P; Paquis-Flucklinger V; Arakawa H; Nakamura Y; Munnich A; Rötig A
Nat Genet; 2007 Jun; 39(6):776-80. PubMed ID: 17486094
[TBL] [Abstract][Full Text] [Related]
4. 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; 12(9):R92. PubMed ID: 21951382
[TBL] [Abstract][Full Text] [Related]
5. Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
Pitceathly RD; Fassone E; Taanman JW; Sadowski M; Fratter C; Mudanohwo EE; Woodward CE; Sweeney MG; Holton JL; Hanna MG; Rahman S
J Med Genet; 2011 Sep; 48(9):610-7. PubMed ID: 21378381
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18575922
[TBL] [Abstract][Full Text] [Related]
7. Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL; Rovira-Moreno E; Ramón J; Codina-Sola M; Llauradó A; Salvadó M; Sánchez-Tejerina D; Sotoca J; Martínez-Sáez E; Martí R; García-Arumí E; Juntas-Morales R
J Hum Genet; 2023 Aug; 68(8):527-532. PubMed ID: 36959467
[TBL] [Abstract][Full Text] [Related]
8. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Hudson G; Amati-Bonneau P; Blakely EL; Stewart JD; He L; Schaefer AM; Griffiths PG; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull DM; Chinnery PF; Taylor RW
Brain; 2008 Feb; 131(Pt 2):329-37. PubMed ID: 18065439
[TBL] [Abstract][Full Text] [Related]
9. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Rodríguez-López C; García-Cárdaba LM; Blázquez A; Serrano-Lorenzo P; Gutiérrez-Gutiérrez G; San Millán-Tejado B; Muelas N; Hernández-Laín A; Vílchez JJ; Gutiérrez-Rivas E; Arenas J; Martín MA; Domínguez-González C
J Med Genet; 2020 Sep; 57(9):643-646. PubMed ID: 32161153
[TBL] [Abstract][Full Text] [Related]
10. 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; 76(23):2032-4. PubMed ID: 21646632
[No Abstract] [Full Text] [Related]
11. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
Longley MJ; Clark S; Yu Wai Man C; Hudson G; Durham SE; Taylor RW; Nightingale S; Turnbull DM; Copeland WC; Chinnery PF
Am J Hum Genet; 2006 Jun; 78(6):1026-34. PubMed ID: 16685652
[TBL] [Abstract][Full Text] [Related]
12. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Van Goethem G; Dermaut B; Löfgren A; Martin JJ; Van Broeckhoven C
Nat Genet; 2001 Jul; 28(3):211-2. PubMed ID: 11431686
[TBL] [Abstract][Full Text] [Related]
13. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
Kaukonen JA; Amati P; Suomalainen A; Rötig A; Piscaglia MG; Salvi F; Weissenbach J; Fratta G; Comi G; Peltonen L; Zeviani M
Am J Hum Genet; 1996 Apr; 58(4):763-9. PubMed ID: 8644740
[TBL] [Abstract][Full Text] [Related]
14. Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Paramasivam A; Meena AK; Pedaparthi L; Jyothi V; Uppin MS; Jabeen SA; Sundaram C; Thangaraj K
Mitochondrion; 2016 Jan; 26():81-5. PubMed ID: 26689116
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Sommerville EW; Dalla Rosa I; Rosenberg MM; Bruni F; Thompson K; Rocha M; Blakely EL; He L; Falkous G; Schaefer AM; Yu-Wai-Man P; Chinnery PF; Hedstrom L; Spinazzola A; Taylor RW; Gorman GS
Clin Genet; 2020 Feb; 97(2):276-286. PubMed ID: 31600844
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
Negro R; Zoccolella S; Dell'aglio R; Amati A; Artuso L; Bisceglia L; Lavolpe V; Papa S; Serlenga L; Petruzzella V
Neuromuscul Disord; 2009 Jun; 19(6):423-6. PubMed ID: 19428252
[TBL] [Abstract][Full Text] [Related]
17. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Spelbrink JN; Li FY; Tiranti V; Nikali K; Yuan QP; Tariq M; Wanrooij S; Garrido N; Comi G; Morandi L; Santoro L; Toscano A; Fabrizi GM; Somer H; Croxen R; Beeson D; Poulton J; Suomalainen A; Jacobs HT; Zeviani M; Larsson C
Nat Genet; 2001 Jul; 28(3):223-31. PubMed ID: 11431692
[TBL] [Abstract][Full Text] [Related]
18. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Goffart S; Cooper HM; Tyynismaa H; Wanrooij S; Suomalainen A; Spelbrink JN
Hum Mol Genet; 2009 Jan; 18(2):328-40. PubMed ID: 18971204
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 15258213
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 24727571
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]