228 related articles for article (PubMed ID: 17287286)
1. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Ostergaard E; Hansen FJ; Sorensen N; Duno M; Vissing J; Larsen PL; Faeroe O; Thorgrimsson S; Wibrand F; Christensen E; Schwartz M
Brain; 2007 Mar; 130(Pt 3):853-61. PubMed ID: 17287286
[TBL] [Abstract][Full Text] [Related]
2. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R; Dionisi-Vici C; Steuerwald U; Lucioli S; Deodato F; Di Giandomenico S; Bertini E; Franke B; Kluijtmans LA; Meschini MC; Rizzo C; Piemonte F; Rodenburg R; Santer R; Santorelli FM; van Rooij A; Vermunt-de Koning D; Morava E; Wevers RA
Brain; 2007 Mar; 130(Pt 3):862-74. PubMed ID: 17301081
[TBL] [Abstract][Full Text] [Related]
3. Novel mutation in SUCLA2 identified on sequencing analysis.
Güngör O; Özkaya AK; Güngör G; Karaer K; Dilber C; Aydin K
Pediatr Int; 2016 Jul; 58(7):659-61. PubMed ID: 26952923
[TBL] [Abstract][Full Text] [Related]
4. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R; Verrigni D; Rasmussen M; de Coo R; Amartino H; Bianchi M; Buhas D; Mesli S; Naess K; Born AP; Woldseth B; Prontera P; Batbayli M; Ravn K; Joensen F; Cordelli DM; Santorelli FM; Tulinius M; Darin N; Duno M; Jouvencel P; Burlina A; Stangoni G; Bertini E; Redonnet-Vernhet I; Wibrand F; Dionisi-Vici C; Uusimaa J; Vieira P; Osorio AN; McFarland R; Taylor RW; Holme E; Ostergaard E
J Inherit Metab Dis; 2016 Mar; 39(2):243-52. PubMed ID: 26475597
[TBL] [Abstract][Full Text] [Related]
5. [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Liu Z; Fang F; Ding C; Wu H; Lyu J; Wu Y
Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):817-21. PubMed ID: 25582465
[TBL] [Abstract][Full Text] [Related]
6. The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
Jaberi E; Chitsazian F; Ali Shahidi G; Rohani M; Sina F; Safari I; Malakouti Nejad M; Houshmand M; Klotzle B; Elahi E
J Hum Genet; 2013 Aug; 58(8):526-30. PubMed ID: 23759946
[TBL] [Abstract][Full Text] [Related]
7. Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Matilainen S; Isohanni P; Euro L; Lönnqvist T; Pihko H; Kivelä T; Knuutila S; Suomalainen A
Eur J Hum Genet; 2015 Mar; 23(3):325-30. PubMed ID: 24986829
[TBL] [Abstract][Full Text] [Related]
8. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Rouzier C; Le Guédard-Méreuze S; Fragaki K; Serre V; Miro J; Tuffery-Giraud S; Chaussenot A; Bannwarth S; Caruba C; Ostergaard E; Pellissier JF; Richelme C; Espil C; Chabrol B; Paquis-Flucklinger V
J Med Genet; 2010 Oct; 47(10):670-6. PubMed ID: 20693550
[TBL] [Abstract][Full Text] [Related]
9. A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.
Nogueira C; Meschini MC; Nesti C; Garcia P; Diogo L; Valongo C; Costa R; Videira A; Vilarinho L; Santorelli FM
J Child Neurol; 2015 Feb; 30(2):228-32. PubMed ID: 24659738
[TBL] [Abstract][Full Text] [Related]
10. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Morava E; Steuerwald U; Carrozzo R; Kluijtmans LA; Joensen F; Santer R; Dionisi-Vici C; Wevers RA
Mitochondrion; 2009 Nov; 9(6):438-42. PubMed ID: 19666145
[TBL] [Abstract][Full Text] [Related]
11. Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
Biochem Biophys Res Commun; 2018 Jan; 495(2):1730-1737. PubMed ID: 29217198
[TBL] [Abstract][Full Text] [Related]
12. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Ostergaard E; Schwartz M; Batbayli M; Christensen E; Hjalmarson O; Kollberg G; Holme E
Eur J Pediatr; 2010 Feb; 169(2):201-5. PubMed ID: 19526370
[TBL] [Abstract][Full Text] [Related]
13. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Huang X; Bedoyan JK; Demirbas D; Harris DJ; Miron A; Edelheit S; Grahame G; DeBrosse SD; Wong LJ; Hoppel CL; Kerr DS; Anselm I; Berry GT
Mol Genet Metab; 2017 Mar; 120(3):213-222. PubMed ID: 27913098
[TBL] [Abstract][Full Text] [Related]
14. Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
Chinnery PF
Brain; 2007 Mar; 130(Pt 3):606-9. PubMed ID: 17347254
[No Abstract] [Full Text] [Related]
15. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C; Fang M; Invernizzi F; Liu X; Wang H; Zhang Q; Carrara F; Moroni I; Zeviani M; Zhang J; Ghezzi D
Mol Genet Metab; 2012 Nov; 107(3):403-8. PubMed ID: 23010432
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
Hirano M; Nishigaki Y; Martí R
Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311
[TBL] [Abstract][Full Text] [Related]
17. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
Elpeleg O; Miller C; Hershkovitz E; Bitner-Glindzicz M; Bondi-Rubinstein G; Rahman S; Pagnamenta A; Eshhar S; Saada A
Am J Hum Genet; 2005 Jun; 76(6):1081-6. PubMed ID: 15877282
[TBL] [Abstract][Full Text] [Related]
18. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
Lesko N; Naess K; Wibom R; Solaroli N; Nennesmo I; von Döbeln U; Karlsson A; Larsson NG
Neuromuscul Disord; 2010 Mar; 20(3):198-203. PubMed ID: 20083405
[TBL] [Abstract][Full Text] [Related]
19. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP; Gradinger AB; Watkins D; Tirone JC; Villeneuve A; Dobson CM; Montpetit A; Lepage P; Gravel RA; Rosenblatt DS
Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054
[TBL] [Abstract][Full Text] [Related]
20. A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kintarak J; Liewluck T; Sangruchi T; Hirano M; Kulkantrakorn K; Muengtaweepongsa S
Clin Neurol Neurosurg; 2007 Sep; 109(7):613-6. PubMed ID: 17544574
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]