372 related articles for article (PubMed ID: 18971204)
21. Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Ronchi D; Fassone E; Bordoni A; Sciacco M; Lucchini V; Di Fonzo A; Rizzuti M; Colombo I; Napoli L; Ciscato P; Moggio M; Cosi A; Collotta M; Corti S; Bresolin N; Comi GP
J Neurol Sci; 2011 Sep; 308(1-2):173-6. PubMed ID: 21689831
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Sarzi E; Goffart S; Serre V; Chrétien D; Slama A; Munnich A; Spelbrink JN; Rötig A
Ann Neurol; 2007 Dec; 62(6):579-87. PubMed ID: 17722119
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
28. 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]
29. Replication stalling by catalytically impaired Twinkle induces mitochondrial DNA rearrangements in cultured cells.
Pohjoismäki JL; Goffart S; Spelbrink JN
Mitochondrion; 2011 Jul; 11(4):630-4. PubMed ID: 21540127
[TBL] [Abstract][Full Text] [Related]
30. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
Van Goethem G; Martin JJ; Van Broeckhoven C
Neuromolecular Med; 2003; 3(3):129-46. PubMed ID: 12835509
[TBL] [Abstract][Full Text] [Related]
31. Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.
Wanrooij S; Goffart S; Pohjoismäki JL; Yasukawa T; Spelbrink JN
Nucleic Acids Res; 2007; 35(10):3238-51. PubMed ID: 17452351
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Defects in mitochondrial DNA replication and human disease.
Copeland WC
Crit Rev Biochem Mol Biol; 2012; 47(1):64-74. PubMed ID: 22176657
[TBL] [Abstract][Full Text] [Related]
34. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Hakonen AH; Goffart S; Marjavaara S; Paetau A; Cooper H; Mattila K; Lampinen M; Sajantila A; Lönnqvist T; Spelbrink JN; Suomalainen A
Hum Mol Genet; 2008 Dec; 17(23):3822-35. PubMed ID: 18775955
[TBL] [Abstract][Full Text] [Related]
35. Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
Ashley N; Adams S; Slama A; Zeviani M; Suomalainen A; Andreu AL; Naviaux RK; Poulton J
Hum Mol Genet; 2007 Jun; 16(12):1400-11. PubMed ID: 17483096
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Hudson G; Amati-Bonneau P; Blakely EL; Stewart JD; He L; Schaefer AM; Griffiths PG; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull DM; Chinnery PF; Taylor RW
Brain; 2008 Feb; 131(Pt 2):329-37. PubMed ID: 18065439
[TBL] [Abstract][Full Text] [Related]
39. A novel variation in the Twinkle linker region causing late-onset dementia.
Echaniz-Laguna A; Chanson JB; Wilhelm JM; Sellal F; Mayençon M; Mohr M; Tranchant C; Mousson de Camaret B
Neurogenetics; 2010 Feb; 11(1):21-5. PubMed ID: 19513767
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]