194 related articles for article (PubMed ID: 31600844)
1. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Sommerville EW; Dalla Rosa I; Rosenberg MM; Bruni F; Thompson K; Rocha M; Blakely EL; He L; Falkous G; Schaefer AM; Yu-Wai-Man P; Chinnery PF; Hedstrom L; Spinazzola A; Taylor RW; Gorman GS
Clin Genet; 2020 Feb; 97(2):276-286. PubMed ID: 31600844
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
Carrozzo R; Hirano M; Fromenty B; Casali C; Santorelli FM; Bonilla E; DiMauro S; Schon EA; Miranda AF
Neurology; 1998 Jan; 50(1):99-106. PubMed ID: 9443465
[TBL] [Abstract][Full Text] [Related]
4. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.
Bohlega S; Tanji K; Santorelli FM; Hirano M; al-Jishi A; DiMauro S
Neurology; 1996 May; 46(5):1329-34. PubMed ID: 8628476
[TBL] [Abstract][Full Text] [Related]
5. Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL; Rovira-Moreno E; Ramón J; Codina-Sola M; Llauradó A; Salvadó M; Sánchez-Tejerina D; Sotoca J; Martínez-Sáez E; Martí R; García-Arumí E; Juntas-Morales R
J Hum Genet; 2023 Aug; 68(8):527-532. PubMed ID: 36959467
[TBL] [Abstract][Full Text] [Related]
6. Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.
Takata A; Kato M; Nakamura M; Yoshikawa T; Kanba S; Sano A; Kato T
Genome Biol; 2011 Sep; 12(9):R92. PubMed ID: 21951382
[TBL] [Abstract][Full Text] [Related]
7. The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
Zhao Y; Hou Y; Zhao X; Liufu T; Yu M; Zhang W; Xie Z; Zhang VW; Yuan Y; Wang Z
Mol Genet Genomic Med; 2024 Jan; 12(1):e2328. PubMed ID: 38018320
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients.
Laforêt P; Lombès A; Eymard B; Danan C; Chevallay M; Rouche A; Frachon P; Fardeau M
Neuromuscul Disord; 1995 Sep; 5(5):399-413. PubMed ID: 7496174
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Progressive external ophthalmoplegia.
Hirano M; Pitceathly RDS
Handb Clin Neurol; 2023; 194():9-21. PubMed ID: 36813323
[TBL] [Abstract][Full Text] [Related]
13. Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Hou Y; Zhao X; Xie Z; Yu M; Lv H; Zhang W; Yuan Y; Wang Z
Mol Genet Genomic Med; 2022 May; 10(5):e1921. PubMed ID: 35289132
[TBL] [Abstract][Full Text] [Related]
14. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B; Kaliszewska M; Rusecka J; Kosińska J; Bartnik E; Tońska K; Kamińska AM; Kostera-Pruszczyk A
Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33396418
[TBL] [Abstract][Full Text] [Related]
15. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
Moslemi AR; Melberg A; Holme E; Oldfors A
Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S
Arch Neurol; 2008 Jan; 65(1):125-31. PubMed ID: 18195150
[TBL] [Abstract][Full Text] [Related]
19. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
Suomalainen A; Majander A; Wallin M; Setälä K; Kontula K; Leinonen H; Salmi T; Paetau A; Haltia M; Valanne L; Lonnqvist J; Peltonen L; Somer H
Neurology; 1997 May; 48(5):1244-53. PubMed ID: 9153451
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres.
Oldfors A; Larsson NG; Holme E; Tulinius M; Kadenbach B; Droste M
J Neurol Sci; 1992 Jul; 110(1-2):169-77. PubMed ID: 1324295
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]