136 related articles for article (PubMed ID: 16601896)
1. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
Coenen MJ; Smeitink JA; Farhoud MH; Nijtmans LG; Rodenburg R; Janssen A; van Kaauwen EP; Trijbels FJ; van den Heuvel LP
J Inherit Metab Dis; 2006 Feb; 29(1):212-3. PubMed ID: 16601896
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. 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]
5. [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]
6. 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]
7. 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]
8. 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]
9. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Bugiani M; Tiranti V; Farina L; Uziel G; Zeviani M
J Med Genet; 2005 May; 42(5):e28. PubMed ID: 15863660
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E; Serra G; Antona V; Giuffrè M; Giorgio E; Sirchia F; Schierz IAM; Brusco A; Corsello G
Ital J Pediatr; 2020 Sep; 46(1):140. PubMed ID: 32972427
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
Coenen MJ; van den Heuvel LP; Nijtmans LG; Morava E; Marquardt I; Girschick HJ; Trijbels FJ; Grivell LA; Smeitink JA
Biochem Biophys Res Commun; 1999 Nov; 265(2):339-44. PubMed ID: 10558868
[TBL] [Abstract][Full Text] [Related]
17. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
Kovářová N; Cížková Vrbacká A; Pecina P; Stránecký V; Pronicka E; Kmoch S; Houštěk J
Biochim Biophys Acta; 2012 Jul; 1822(7):1114-24. PubMed ID: 22465034
[TBL] [Abstract][Full Text] [Related]
18. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
Farina L; Chiapparini L; Uziel G; Bugiani M; Zeviani M; Savoiardo M
AJNR Am J Neuroradiol; 2002 Aug; 23(7):1095-100. PubMed ID: 12169463
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
