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8. 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]
9. 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]
10. Mutations in SURF1 are not specifically associated with Leigh syndrome. Von Kleist-Retzow JC; Yao J; Taanman JW; Chantrel K; Chretien D; Cormier-Daire V; Rotig A; Munnich A; Rustin P; Shoubridge EA J Med Genet; 2001 Feb; 38(2):109-13. PubMed ID: 11288709 [No Abstract] [Full Text] [Related]
11. [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]. Capková M; Hansíková H; Godinot C; Houst'ková H; Houstĕk J; Zeman J Cas Lek Cesk; 2002 Oct; 141(20):636-41. PubMed ID: 12515039 [TBL] [Abstract][Full Text] [Related]
12. SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. Li Y; Wen S; Li D; Xie J; Wei X; Li X; Liu Y; Fang H; Yang Y; Lyu J Gene; 2018 Oct; 674():15-24. PubMed ID: 29933018 [TBL] [Abstract][Full Text] [Related]
13. [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]
14. Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates. Pronicka E; Piekutowska-Abramczuk DH; Popowska E; Pronicki M; Karczmarewicz E; Sykut-Cegielskâ Y; Taybert J J Inherit Metab Dis; 2001 Dec; 24(7):707-14. PubMed ID: 11804207 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. MRI in Leigh syndrome with SURF1 gene mutation. Savoiardo M; Zeviani M; Uziel G; Farina L Ann Neurol; 2002 Jan; 51(1):138-9. PubMed ID: 11782998 [No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease. Pronicki M; Matyja E; Piekutowska-Abramczuk D; Szymanska-Debinska T; Karkucinska-Wieckowska A; Karczmarewicz E; Grajkowska W; Kmiec T; Popowska E; Sykut-Cegielska J J Clin Pathol; 2008 Apr; 61(4):460-6. PubMed ID: 17908801 [TBL] [Abstract][Full Text] [Related]
20. Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. Ribeiro C; do Carmo Macário M; Viegas AT; Pratas J; Santos MJ; Simões M; Mendes C; Bacalhau M; Garcia P; Diogo L; Grazina M Mitochondrion; 2016 Nov; 31():84-88. PubMed ID: 27756633 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]