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.
93 related articles for article (PubMed ID: 12557300)
1. The V368i mutation in Twinkle does not segregate with AdPEO. Arenas J; Briem E; Dahl H; Hutchison W; Lewis S; Martin MA; Spelbrink H; Tiranti V; Jacobs H; Zeviani M Ann Neurol; 2003 Feb; 53(2):278. PubMed ID: 12557300 [No Abstract] [Full Text] [Related]
2. A helicase is born. Moraes CT Nat Genet; 2001 Jul; 28(3):200-1. PubMed ID: 11431681 [TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. Lewis S; Hutchison W; Thyagarajan D; Dahl HH J Neurol Sci; 2002 Sep; 201(1-2):39-44. PubMed ID: 12163192 [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. 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]
7. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Van Goethem G; Löfgren A; Dermaut B; Ceuterick C; Martin JJ; Van Broeckhoven C Hum Mutat; 2003 Aug; 22(2):175-6. PubMed ID: 12872260 [No Abstract] [Full Text] [Related]
8. 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]
9. Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia. Korhonen JA; Pande V; Holmlund T; Farge G; Pham XH; Nilsson L; Falkenberg M J Mol Biol; 2008 Mar; 377(3):691-705. PubMed ID: 18279890 [TBL] [Abstract][Full Text] [Related]
10. Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase. Peter B; Farge G; Pardo-Hernandez C; Tångefjord S; Falkenberg M Hum Mol Genet; 2019 Apr; 28(7):1090-1099. PubMed ID: 30496414 [TBL] [Abstract][Full Text] [Related]
11. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Deschauer M; Kiefer R; Blakely EL; He L; Zierz S; Turnbull DM; Taylor RW Neuromuscul Disord; 2003 Sep; 13(7-8):568-72. PubMed ID: 12921794 [TBL] [Abstract][Full Text] [Related]
12. Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia. Houshmand M; Panahi MS; Hosseini BN; Dorraj GH; Tabassi AR Neurol India; 2006 Jun; 54(2):182-5. PubMed ID: 16804265 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18989381 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. Ji K; Liu K; Lin P; Wen B; Luo YB; Zhao Y; Yan C Neurol Sci; 2014 Mar; 35(3):443-8. PubMed ID: 24091712 [TBL] [Abstract][Full Text] [Related]
16. Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. Bohlega S; Van Goethem G; Al Semari A; Löfgren A; Al Hamed M; Van Broeckhoven C; Kambouris M Neuromuscul Disord; 2009 Dec; 19(12):845-8. PubMed ID: 19853444 [TBL] [Abstract][Full Text] [Related]
17. Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation. Vandenberghe W; Van Laere K; Debruyne F; Van Broeckhoven C; Van Goethem G Mov Disord; 2009 Jan; 24(2):308-9. PubMed ID: 18973250 [No Abstract] [Full Text] [Related]
18. Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia. Holmlund T; Farge G; Pande V; Korhonen J; Nilsson L; Falkenberg M Biochim Biophys Acta; 2009 Feb; 1792(2):132-9. PubMed ID: 19084593 [TBL] [Abstract][Full Text] [Related]
19. Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes. Shutt TE; Gray MW J Mol Evol; 2006 May; 62(5):588-99. PubMed ID: 16612544 [TBL] [Abstract][Full Text] [Related]
20. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Baloh RH; Salavaggione E; Milbrandt J; Pestronk A Arch Neurol; 2007 Jul; 64(7):998-1000. PubMed ID: 17620490 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]