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PubMed (OMIM) for id: 57176
7 results
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Page 1
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
BMC Med Genet. 2019 May 7;20(1):77. doi: 10.1186/s12881-019-0798-7.
BMC Med Genet. 2019.
PMID: 31064326
Free PMC article.
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.
Bruni F, et al.
Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.
Hum Mutat. 2018.
PMID: 29314548
Free PMC article.
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Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.
Baertling F, et al.
Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8.
Metab Brain Dis. 2017.
PMID: 27502409
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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.
Taylor RW, et al.
JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.
JAMA. 2014.
PMID: 25058219
Free PMC article.
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VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.
Diodato D, et al.
Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.
Hum Mutat. 2014.
PMID: 24827421
Free PMC article.
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Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M.
Bonnefond L, et al.
Biochemistry. 2005 Mar 29;44(12):4805-16. doi: 10.1021/bi047527z.
Biochemistry. 2005.
PMID: 15779907
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Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
Nagase T, Kikuno R, Ohara O.
Nagase T, et al.
DNA Res. 2001 Aug 31;8(4):179-87. doi: 10.1093/dnares/8.4.179.
DNA Res. 2001.
PMID: 11572484
Free article.
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