187 related articles for article (PubMed ID: 22377773)
1. Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.
Martikainen MH; Hinttala R; Röyttä M; Jääskeläinen S; Wendelin-Saarenhovi M; Parkkola R; Majamaa K
Neuroepidemiology; 2012; 38(2):114-9. PubMed ID: 22377773
[TBL] [Abstract][Full Text] [Related]
2. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R; Ronchi D; Hadjigeorgiou GM; Bordoni A; Saladino F; Moggio M; Adobbati L; Kafetsouli D; Tsironi E; Previtali S; Papadimitriou A; Bresolin N; Comi GP
J Neurol; 2008 Sep; 255(9):1384-91. PubMed ID: 18575922
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Hudson G; Deschauer M; Taylor RW; Hanna MG; Fialho D; Schaefer AM; He LP; Blakely E; Turnbull DM; Chinnery PF
Neurology; 2006 May; 66(9):1439-41. PubMed ID: 16682683
[TBL] [Abstract][Full Text] [Related]
6. Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
Del Bo R; Bordoni A; Sciacco M; Di Fonzo A; Galbiati S; Crimi M; Bresolin N; Comi GP
Neurology; 2003 Oct; 61(7):903-8. PubMed ID: 14557557
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
Van Goethem G; Martin JJ; Van Broeckhoven C
Acta Neurol Belg; 2002 Mar; 102(1):39-42. PubMed ID: 12094562
[TBL] [Abstract][Full Text] [Related]
10. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
Hanisch F; Kornhuber M; Alston CL; Taylor RW; Deschauer M; Zierz S
J Neurol Neurosurg Psychiatry; 2015 Jun; 86(6):630-4. PubMed ID: 25143630
[TBL] [Abstract][Full Text] [Related]
11. A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.
Santoro L; Manganelli F; Lanzillo R; Tessa A; Barbieri F; Pierelli F; Di Giacinto G; Nigro V; Santorelli FM
J Neurol; 2006 Jul; 253(7):869-74. PubMed ID: 16715201
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Di Fonzo A; Bordoni A; Crimi M; Sara G; Del Bo R; Bresolin N; Comi GP
Hum Mutat; 2003 Dec; 22(6):498-9. PubMed ID: 14635118
[TBL] [Abstract][Full Text] [Related]
14. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
Kollberg G; Jansson M; Pérez-Bercoff A; Melberg A; Lindberg C; Holme E; Moslemi AR; Oldfors A
Eur J Hum Genet; 2005 Apr; 13(4):463-9. PubMed ID: 15702133
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Paramasivam A; Meena AK; Pedaparthi L; Jyothi V; Uppin MS; Jabeen SA; Sundaram C; Thangaraj K
Mitochondrion; 2016 Jan; 26():81-5. PubMed ID: 26689116
[TBL] [Abstract][Full Text] [Related]
17. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
Mukai M; Sugaya K; Matsubara S; Cai H; Yabe I; Sasaki H; Nakano I
Rinsho Shinkeigaku; 2014; 54(5):417-22. PubMed ID: 24943079
[TBL] [Abstract][Full Text] [Related]
18. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Van Goethem G; Dermaut B; Löfgren A; Martin JJ; Van Broeckhoven C
Nat Genet; 2001 Jul; 28(3):211-2. PubMed ID: 11431686
[TBL] [Abstract][Full Text] [Related]
19. [Mitochondrial disease and mitochondrial DNA depletion syndromes].
Huang CC; Hsu CH
Acta Neurol Taiwan; 2009 Dec; 18(4):287-95. PubMed ID: 20329599
[TBL] [Abstract][Full Text] [Related]
20. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Wanrooij S; Luoma P; van Goethem G; van Broeckhoven C; Suomalainen A; Spelbrink JN
Nucleic Acids Res; 2004; 32(10):3053-64. PubMed ID: 15181170
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
