These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. Piekutowska-Abramczuk D; Popowska E; Pronicki M; Karczmarewicz E; Tylek-Lemanska D; Sykut-Cegielska J; Szymanska-Dembinska T; Bielecka L; Krajewska-Walasek M; Pronicka E Eur J Paediatr Neurol; 2009 Mar; 13(2):146-53. PubMed ID: 18583168 [TBL] [Abstract][Full Text] [Related]
12. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Debray FG; Morin C; Janvier A; Villeneuve J; Maranda B; Laframboise R; Lacroix J; Decarie JC; Robitaille Y; Lambert M; Robinson BH; Mitchell GA J Med Genet; 2011 Mar; 48(3):183-9. PubMed ID: 21266382 [TBL] [Abstract][Full Text] [Related]
13. [Leigh's syndrome and mitochondrial myopathy]. Nakase H Nihon Rinsho; 1993 Sep; 51(9):2403-8. PubMed ID: 8411720 [TBL] [Abstract][Full Text] [Related]
14. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. Tay SK; Nesti C; Mancuso M; Schon EA; Shanske S; Bonilla E; Davidson MM; Dimauro S Arch Neurol; 2004 Dec; 61(12):1935-7. PubMed ID: 15596615 [TBL] [Abstract][Full Text] [Related]
16. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. Yüksel A; Seven M; Cetincelik U; Yeşil G; Köksal V Pediatr Neurol; 2006 Jun; 34(6):486-9. PubMed ID: 16765830 [TBL] [Abstract][Full Text] [Related]
17. Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA. Pancrudo J; Shanske S; Bonilla E; Daras M; Akman HO; Krishna S; Malkin E; DiMauro S J Child Neurol; 2007 Jul; 22(7):858-62. PubMed ID: 17715279 [TBL] [Abstract][Full Text] [Related]
18. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. Tulinius M; Moslemi AR; Darin N; Westerberg B; Wiklund LM; Holme E; Oldfors A Neuropediatrics; 2003 Apr; 34(2):87-91. PubMed ID: 12776230 [TBL] [Abstract][Full Text] [Related]
19. [Complex III (ubiquinone-cytochrome c reductase) deficiency]. Nonaka I Ryoikibetsu Shokogun Shirizu; 2001; (36):135-6. PubMed ID: 11596344 [No Abstract] [Full Text] [Related]
20. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. Tay SK; Sacconi S; Akman HO; Morales JF; Morales A; De Vivo DC; Shanske S; Bonilla E; DiMauro S J Child Neurol; 2005 Aug; 20(8):670-4. PubMed ID: 16225813 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]