Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2007 | 3 |
2013 | 1 |
2024 | 0 |
PubMed (cited) for id: 612073
5 results
Results by year
Filters applied: . Clear all
Page 1
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
J Hum Genet. 2013 Aug;58(8):526-30. doi: 10.1038/jhg.2013.45. Epub 2013 Jun 13.
J Hum Genet. 2013.
PMID: 23759946
Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
Chinnery PF.
Chinnery PF.
Brain. 2007 Mar;130(Pt 3):606-9. doi: 10.1093/brain/awm023.
Brain. 2007.
PMID: 17347254
Review.
No abstract available.
Item in Clipboard
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.
Carrozzo R, et al.
Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14.
Brain. 2007.
PMID: 17301081
Item in Clipboard
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.
Ostergaard E, et al.
Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 Feb 7.
Brain. 2007.
PMID: 17287286
Item in Clipboard
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.
Elpeleg O, et al.
Am J Hum Genet. 2005 Jun;76(6):1081-6. doi: 10.1086/430843. Epub 2005 Apr 22.
Am J Hum Genet. 2005.
PMID: 15877282
Free PMC article.
Item in Clipboard
Cite
Cite