These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 21951382)

  • 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; 12(9):R92. PubMed ID: 21951382
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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. PubMed ID: 16715201
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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; 21(1):66-75. PubMed ID: 21937588
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 60(8):1354-6. PubMed ID: 12707443
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 12565911
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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; 32(10):3053-64. PubMed ID: 15181170
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
    Da Pozzo P; Rubegni A; Rufa A; Cardaioli E; Taglia I; Gallus GN; Malandrini A; Federico A
    Neurol Sci; 2015 Sep; 36(9):1713-5. PubMed ID: 26050231
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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. PubMed ID: 23107649
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.
    Lin Y; Du J; Wang W; Ren H; Zhao D; Liu F; Lin P; Ji K; Zhao Y; Yan C
    Neurol Sci; 2021 Oct; 42(10):4271-4280. PubMed ID: 34189666
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 19705478
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.