98 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]
4. [ANT1, twinkle, POLG mutation].
Komaki H; Goto Y
Nihon Rinsho; 2002 Apr; 60 Suppl 4():353-6. PubMed ID: 12013885
[No 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]
