BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 23829769)

  • 21. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.
    Pecina P; Capková M; Chowdhury SK; Drahota Z; Dubot A; Vojtísková A; Hansíková H; Houst'ková H; Zeman J; Godinot C; Houstek J
    Biochim Biophys Acta; 2003 Sep; 1639(1):53-63. PubMed ID: 12943968
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
    Santoro L; Carrozzo R; Malandrini A; Piemonte F; Patrono C; Villanova M; Tessa A; Palmeri S; Bertini E; Santorelli FM
    Neuromuscul Disord; 2000 Aug; 10(6):450-3. PubMed ID: 10899453
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.
    Salviati L; Freehauf C; Sacconi S; DiMauro S; Thoma J; Tsai AC
    Am J Med Genet A; 2004 Jul; 128A(2):195-8. PubMed ID: 15214016
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.
    Stettner GM; Viscomi C; Zeviani M; Wilichowski E; Dutschmann M
    Mitochondrion; 2011 May; 11(3):413-20. PubMed ID: 21167962
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. A SURF1 gene mutation presenting as isolated leukodystrophy.
    Rahman S; Brown RM; Chong WK; Wilson CJ; Brown GK
    Ann Neurol; 2001 Jun; 49(6):797-800. PubMed ID: 11409433
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. [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]  

  • 31. Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.
    Pecina P; Gnaiger E; Zeman J; Pronicka E; Houstek J
    Am J Physiol Cell Physiol; 2004 Nov; 287(5):C1384-8. PubMed ID: 15269007
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
    Tanigawa J; Kaneko K; Honda M; Harashima H; Murayama K; Wada T; Takano K; Iai M; Yamashita S; Shimbo H; Aida N; Ohtake A; Osaka H
    Brain Dev; 2012 Nov; 34(10):861-5. PubMed ID: 22410471
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.
    Rodinová M; Trefilová E; Honzík T; Tesařová M; Zeman J; Hansíková H
    Folia Biol (Praha); 2014; 60(6):268-74. PubMed ID: 25629267
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. [Clinical and genetic characteristics of children with Leigh syndrome].
    Fang F; Shen Y; Shen DM; Liu ZM; Ding CH; Zhang WC; Sun SZ; Lyu JL; Han TL; Wang XH; Zhang WH; Yang XY; Li JW; Wu HS
    Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):205-209. PubMed ID: 28273704
    [No Abstract]   [Full Text] [Related]  

  • 37. Hypertrichosis in patients with SURF1 mutations.
    Ostergaard E; Bradinova I; Ravn SH; Hansen FJ; Simeonov E; Christensen E; Wibrand F; Schwartz M
    Am J Med Genet A; 2005 Nov; 138(4):384-8. PubMed ID: 16222681
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.
    Bundschuh FA; Hannappel A; Anderka O; Ludwig B
    J Biol Chem; 2009 Sep; 284(38):25735-41. PubMed ID: 19625251
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome.
    Poyau A; Buchet K; Godinot C
    FEBS Lett; 1999 Dec; 462(3):416-20. PubMed ID: 10622737
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 12.