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Journal Abstract Search
264 related items for PubMed ID: 10894222
1. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Ann Neurol; 2000 Jul; 48(1):102-4. PubMed ID: 10894222 [Abstract] [Full Text] [Related]
2. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]. Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF. Rev Neurol; 2000 Jul; 49(5):248-50. PubMed ID: 19714555 [Abstract] [Full Text] [Related]
3. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659 [Abstract] [Full Text] [Related]
4. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR. Ann Neurol; 1995 Aug; 38(2):163-9. PubMed ID: 7654063 [Abstract] [Full Text] [Related]
8. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. Eur J Paediatr Neurol; 2002 Aug; 6(2):121-3. PubMed ID: 11995959 [Abstract] [Full Text] [Related]
9. Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Martin-Kleiner I, Gabrilovac J, Bradvica M, Vidović T, Cerovski B, Fumić K, Boranić M. Coll Antropol; 2006 Mar; 30(1):171-4. PubMed ID: 16617593 [Abstract] [Full Text] [Related]
15. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. Ann Neurol; 1993 Dec; 34(6):827-34. PubMed ID: 8250532 [Abstract] [Full Text] [Related]
19. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA. Biochem Biophys Res Commun; 2000 Aug 18; 275(1):63-8. PubMed ID: 10944442 [Abstract] [Full Text] [Related]