37 related articles for article (PubMed ID: 17614277)
1. Structural and dynamic basis of DNA capture and translocation by mitochondrial Twinkle helicase.
Li Z; Kaur P; Lo CY; Chopra N; Smith J; Wang H; Gao Y
Nucleic Acids Res; 2022 Nov; 50(20):11965-11978. PubMed ID: 36400570
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to
Bermejo-Guerrero L; de Fuenmayor-Fernández de la Hoz CP; Serrano-Lorenzo P; Blázquez-Encinar A; Gutiérrez-Gutiérrez G; Martínez-Vicente L; Galán-Dávila L; García-García J; Arenas J; Muelas N; Hernández-Laín A; Domínguez-González C; Martín MA
J Clin Med; 2021 Dec; 11(1):. PubMed ID: 35011763
[TBL] [Abstract][Full Text] [Related]
4. Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.
Persson Ö; Muthukumar Y; Basu S; Jenninger L; Uhler JP; Berglund AK; McFarland R; Taylor RW; Gustafsson CM; Larsson E; Falkenberg M
Nat Commun; 2019 Feb; 10(1):759. PubMed ID: 30770810
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
Longley MJ; Humble MM; Sharief FS; Copeland WC
J Biol Chem; 2010 Sep; 285(39):29690-702. PubMed ID: 20659899
[TBL] [Abstract][Full Text] [Related]
7. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C; Gorman GS; Stewart JD; Buddles M; Smith C; Evans J; Seller A; Poulton J; Roberts M; Hanna MG; Rahman S; Omer SE; Klopstock T; Schoser B; Kornblum C; Czermin B; Lecky B; Blakely EL; Craig K; Chinnery PF; Turnbull DM; Horvath R; Taylor RW
Neurology; 2010 May; 74(20):1619-26. PubMed ID: 20479361
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
Van Hove JL; Cunningham V; Rice C; Ringel SP; Zhang Q; Chou PC; Truong CK; Wong LJ
Am J Med Genet A; 2009 May; 149A(5):861-7. PubMed ID: 19353676
[TBL] [Abstract][Full Text] [Related]
11. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
Rivera H; Blázquez A; Carretero J; Alvarez-Cermeño JC; Campos Y; Cabello A; Gonzalez-Vioque E; Borstein B; Garesse R; Arenas J; Martín MA
Neuromuscul Disord; 2007 Oct; 17(9-10):677-80. PubMed ID: 17614277
[TBL] [Abstract][Full Text] [Related]
12. Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.
Paradas C; Camaño P; Otaegui D; Oz O; Emmanuele V; DiMauro S; Hirano M
JAMA Neurol; 2013 Nov; 70(11):1425-8. PubMed ID: 24018892
[TBL] [Abstract][Full Text] [Related]
13. 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]
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.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]