189 related articles for article (PubMed ID: 29314548)
1. 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
Hum Mutat; 2018 Apr; 39(4):563-578. PubMed ID: 29314548
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Mutat; 2014 Aug; 35(8):983-9. PubMed ID: 24827421
[TBL] [Abstract][Full Text] [Related]
3. 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
Metab Brain Dis; 2017 Feb; 32(1):267-270. PubMed ID: 27502409
[TBL] [Abstract][Full Text] [Related]
4. VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
Begliuomini C; Magli G; Di Rocco M; Santorelli FM; Cassandrini D; Nesti C; Deodato F; Diodato D; Casellato S; Simula DM; Dessì V; Eusebi A; Carta A; Sotgiu S
BMC Med Genet; 2019 May; 20(1):77. PubMed ID: 31064326
[TBL] [Abstract][Full Text] [Related]
5. A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.
Ma K; Xie M; He X; Liu G; Lu X; Peng Q; Zhong B; Li N
BMC Med Genet; 2018 Nov; 19(1):202. PubMed ID: 30458719
[TBL] [Abstract][Full Text] [Related]
6. A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
Chin HL; Goh DL; Wang FS; Tay SKH; Heng CK; Donnini C; Baruffini E; Pines O
J Mol Med (Berl); 2019 Nov; 97(11):1557-1566. PubMed ID: 31529142
[TBL] [Abstract][Full Text] [Related]
7. A novel VARS2 gene variant in a patient with epileptic encephalopathy.
Ruzman L; Kolic I; Radic Nisevic J; Ruzic Barsic A; Skarpa Prpic I; Prpic I
Ups J Med Sci; 2019 Nov; 124(4):273-277. PubMed ID: 31623496
[No Abstract] [Full Text] [Related]
8. Case Report and Review of the Literature: A New and a Recurrent Variant in the
Kušíková K; Feichtinger RG; Csillag B; Kalev OK; Weis S; Duba HC; Mayr JA; Weis D
Front Pediatr; 2021; 9():660076. PubMed ID: 33937156
[TBL] [Abstract][Full Text] [Related]
9. The biochemical characterization of a missense mutation m.8914C>T in ATP6 gene associated with mitochondrial encephalomyopathy.
Guo Y; Zhang Y; Li F; Liu P; Liu Y; Yang C; Song J; Zhang N; Chen Z
Int J Dev Neurosci; 2018 Dec; 71():172-174. PubMed ID: 30273650
[TBL] [Abstract][Full Text] [Related]
10. VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation.
Kayvanpour E; Wisdom M; Lackner MK; Sedaghat-Hamedani F; Boeckel JN; Müller M; Eghbalian R; Dudek J; Doroudgar S; Maack C; Frey N; Meder B
Int J Mol Sci; 2022 Jun; 23(13):. PubMed ID: 35806332
[TBL] [Abstract][Full Text] [Related]
11. Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
Sperl W; Jesina P; Zeman J; Mayr JA; Demeirleir L; VanCoster R; Pícková A; Hansíková H; Houst'ková H; Krejcík Z; Koch J; Smet J; Muss W; Holme E; Houstek J
Neuromuscul Disord; 2006 Dec; 16(12):821-9. PubMed ID: 17052906
[TBL] [Abstract][Full Text] [Related]
12. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Alsemari A; Al-Younes B; Goljan E; Jaroudi D; BinHumaid F; Meyer BF; Arold ST; Monies D
Hum Genomics; 2017 Nov; 11(1):28. PubMed ID: 29137650
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
Pereira S; Adrião M; Sampaio M; Basto MA; Rodrigues E; Vilarinho L; Teles EL; Alonso I; Leão M
JIMD Rep; 2018; 42():113-119. PubMed ID: 29478218
[TBL] [Abstract][Full Text] [Related]
14. The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.
Uittenbogaard M; Wang H; Zhang VW; Wong LJ; Brantner CA; Gropman A; Chiaramello A
Mol Genet Metab; 2019 Apr; 126(4):429-438. PubMed ID: 30709774
[TBL] [Abstract][Full Text] [Related]
15. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X; Ghezzi D; Johnson MA; Biagosch CA; Shamseldin HE; Haack TB; Reyes A; Tsukikawa M; Sheldon CA; Srinivasan S; Gorza M; Kremer LS; Wieland T; Strom TM; Polyak E; Place E; Consugar M; Ostrovsky J; Vidoni S; Robinson AJ; Wong LJ; Sondheimer N; Salih MA; Al-Jishi E; Raab CP; Bean C; Furlan F; Parini R; Lamperti C; Mayr JA; Konstantopoulou V; Huemer M; Pierce EA; Meitinger T; Freisinger P; Sperl W; Prokisch H; Alkuraya FS; Falk MJ; Zeviani M
Am J Hum Genet; 2013 Sep; 93(3):482-95. PubMed ID: 23993194
[TBL] [Abstract][Full Text] [Related]
16. A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Jackson CB; Hahn D; Schröter B; Richter U; Battersby BJ; Schmitt-Mechelke T; Marttinen P; Nuoffer JM; Schaller A
Eur J Med Genet; 2017 Jun; 60(6):345-351. PubMed ID: 28412374
[TBL] [Abstract][Full Text] [Related]
17. Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
Wani AA; Ahanger SH; Bapat SA; Rangrez AY; Hingankar N; Suresh CG; Barnabas S; Patole MS; Shouche YS
PLoS One; 2007 Sep; 2(9):e942. PubMed ID: 17895983
[TBL] [Abstract][Full Text] [Related]
18. Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.
Järviaho T; Hurme-Niiranen A; Soini HK; Niinimäki R; Möttönen M; Savolainen ER; Hinttala R; Harila-Saari A; Uusimaa J
Clin Genet; 2018 Feb; 93(2):275-285. PubMed ID: 28708239
[TBL] [Abstract][Full Text] [Related]
19. The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ; Tarailo-Graovac M; Ghani A; Champion M; Deshpande C; Dursun A; Ozgul RK; Freisinger P; Garber I; Haack TB; Horvath R; Barić I; Husain RA; Kluijtmans LAJ; Kotzaeridou U; Morris AA; Ross CJ; Santra S; Smeitink J; Tarnopolsky M; Wortmann SB; Mayr JA; Brunner-Krainz M; Prokisch H; Wasserman WW; Wevers RA; Engelke UF; Rodenburg RJ; Ting TW; McFarland R; Taylor RW; Salvarinova R; van Karnebeek CDM
Mol Genet Metab; 2018 Jan; 123(1):28-42. PubMed ID: 29331171
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T; Tesarová M; Mayr JA; Hansíková H; Jesina P; Bodamer O; Koch J; Magner M; Freisinger P; Huemer M; Kostková O; van Coster R; Kmoch S; Houstêk J; Sperl W; Zeman J
Arch Dis Child; 2010 Apr; 95(4):296-301. PubMed ID: 20335238
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
