234 related articles for article (PubMed ID: 14557577)
1. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
Moslemi AR; Tulinius M; Darin N; Aman P; Holme E; Oldfors A
Neurology; 2003 Oct; 61(7):991-3. PubMed ID: 14557577
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Maalej M; Kammoun T; Alila-Fersi O; Kharrat M; Ammar M; Felhi R; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F
Biochem Biophys Res Commun; 2018 Mar; 497(4):1043-1048. PubMed ID: 29481804
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Bruno C; Biancheri R; Garavaglia B; Biedi C; Rossi A; Lamba LD; Bado M; Greco M; Zeviani M; Minetti C
J Child Neurol; 2002 Mar; 17(3):233-6. PubMed ID: 12026244
[TBL] [Abstract][Full Text] [Related]
5. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR
Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
Williams SL; Taanman JW; Hansíková H; Houst'ková H; Chowdhury S; Zeman J; Houstek J
Mol Genet Metab; 2001 Aug; 73(4):340-3. PubMed ID: 11509016
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO; Dey R; Zeviani M; Tiranti V; Godinot C; Poyau A; Sue C; Di Mauro S; Abitbol M; Marsac C
Hum Mutat; 2001 May; 17(5):374-81. PubMed ID: 11317352
[TBL] [Abstract][Full Text] [Related]
8. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
Monnot S; Chabrol B; Cano A; Pellissier JF; Collignon P; Montfort MF; Paquis-Flucklinger V
Arch Pediatr; 2005 May; 12(5):568-71. PubMed ID: 15885549
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
van Riesen AK; Antonicka H; Ohlenbusch A; Shoubridge EA; Wilichowski EK
Neuropediatrics; 2006 Apr; 37(2):88-94. PubMed ID: 16773507
[TBL] [Abstract][Full Text] [Related]
11. Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Rossi A; Biancheri R; Bruno C; Di Rocco M; Calvi A; Pessagno A; Tortori-Donati P
AJNR Am J Neuroradiol; 2003; 24(6):1188-91. PubMed ID: 12812953
[TBL] [Abstract][Full Text] [Related]
12. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Tiranti V; Jaksch M; Hofmann S; Galimberti C; Hoertnagel K; Lulli L; Freisinger P; Bindoff L; Gerbitz KD; Comi GP; Uziel G; Zeviani M; Meitinger T
Ann Neurol; 1999 Aug; 46(2):161-6. PubMed ID: 10443880
[TBL] [Abstract][Full Text] [Related]
13. [Cytochrome c oxidase deficiency--SURF1 mutations].
Naito E; Ogawa Y
Nihon Rinsho; 2002 Apr; 60 Suppl 4():446-9. PubMed ID: 12013909
[No Abstract] [Full Text] [Related]
14. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
Teraoka M; Yokoyama Y; Ninomiya S; Inoue C; Yamashita S; Seino Y
Hum Genet; 1999 Dec; 105(6):560-3. PubMed ID: 10647889
[TBL] [Abstract][Full Text] [Related]
15. Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.
Zhang Y; Yang YL; Sun F; Cai X; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Zhang YH; Jiang YW; Qin J; Wu XR
J Inherit Metab Dis; 2007 Apr; 30(2):265. PubMed ID: 17323145
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
Sonam K; Khan NA; Bindu PS; Taly AB; Gayathri N; Bharath MM; Govindaraju C; Arvinda HR; Nagappa M; Sinha S; Thangaraj K
Brain Dev; 2014 Oct; 36(9):807-12. PubMed ID: 24262866
[TBL] [Abstract][Full Text] [Related]
18. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
Pequignot MO; Desguerre I; Dey R; Tartari M; Zeviani M; Agostino A; Benelli C; Fouque F; Prip-Buus C; Marchant D; Abitbol M; Marsac C
J Biol Chem; 2001 May; 276(18):15326-9. PubMed ID: 11279059
[TBL] [Abstract][Full Text] [Related]
19. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.
Yao J; Shoubridge EA
Hum Mol Genet; 1999 Dec; 8(13):2541-9. PubMed ID: 10556303
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.
Head RA; Brown RM; Brown GK
J Inherit Metab Dis; 2004; 27(1):57-65. PubMed ID: 14970746
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
