100 related articles for article (PubMed ID: 11756592)
1. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.
Hirano M; DiMauro S
Neurology; 2001 Dec; 57(12):2163-5. PubMed ID: 11756592
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 12975295
[TBL] [Abstract][Full Text] [Related]
3. [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]
4. A helicase is born.
Moraes CT
Nat Genet; 2001 Jul; 28(3):200-1. PubMed ID: 11431681
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naïmi M; Bannwarth S; Procaccio V; Pouget J; Desnuelle C; Pellissier JF; Rötig A; Munnich A; Calvas P; Richelme C; Jonveaux P; Castelnovo G; Simon M; Clanet M; Wallace D; Paquis-Flucklinger V
Eur J Hum Genet; 2006 Aug; 14(8):917-22. PubMed ID: 16639411
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Tyynismaa H; Sembongi H; Bokori-Brown M; Granycome C; Ashley N; Poulton J; Jalanko A; Spelbrink JN; Holt IJ; Suomalainen A
Hum Mol Genet; 2004 Dec; 13(24):3219-27. PubMed ID: 15509589
[TBL] [Abstract][Full Text] [Related]
15. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
González-Vioque E; Blázquez A; Fernández-Moreira D; Bornstein B; Bautista J; Arpa J; Navarro C; Campos Y; Fernández-Moreno MA; Garesse R; Arenas J; Martín MA
Arch Neurol; 2006 Jan; 63(1):107-11. PubMed ID: 16401742
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. The two helicases of herpes simplex virus type 1 (HSV-1).
Chattopadhyay S; Chen Y; Weller SK
Front Biosci; 2006 Sep; 11():2213-23. PubMed ID: 16720308
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Martin-Negrier ML; Sole G; Jardel C; Vital C; Ferrer X; Vital A
Eur J Neurol; 2011 Mar; 18(3):436-41. PubMed ID: 20880070
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
