260 related articles for article (PubMed ID: 33972171)
1. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Roux CJ; Barcia G; Schiff M; Sissler M; Levy R; Dangouloff-Ros V; Desguerre I; Edvardson S; Elpeleg O; Rötig A; Munnich A; Boddaert N
Mol Genet Metab; 2021 Jun; 133(2):222-229. PubMed ID: 33972171
[TBL] [Abstract][Full Text] [Related]
2. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M; Wang J; Dai H; El-Hattab AW; Faqeih EA; Saleh MA; Al Asmari A; Alwadei AH; Aljadhai YI; AlHashem A; Tabarki B; Lines MA; Grange DK; Benini R; Alsaman AS; Mahmoud A; Katsonis P; Lichtarge O; Wong LC
Mol Genet Metab; 2018 Nov; 125(3):281-291. PubMed ID: 30177229
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
Fine AS; Nemeth CL; Kaufman ML; Fatemi A
J Neurodev Disord; 2019 Dec; 11(1):29. PubMed ID: 31839000
[TBL] [Abstract][Full Text] [Related]
4. Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi R; Charif M; Sfaihi L; Mkaouar-Rebai E; Desquiret-Dumas V; Kallel R; Bris C; Goudenège D; Guichet A; Bonneau D; Procaccio V; Reynier P; Amati-Bonneau P; Hachicha M; Fakhfakh F; Lenaers G
Mol Biol Rep; 2020 May; 47(5):3779-3787. PubMed ID: 32319008
[TBL] [Abstract][Full Text] [Related]
5. New insights into the phenotype of FARS2 deficiency.
Vantroys E; Larson A; Friederich M; Knight K; Swanson MA; Powell CA; Smet J; Vergult S; De Paepe B; Seneca S; Roeyers H; Menten B; Minczuk M; Vanlander A; Van Hove J; Van Coster R
Mol Genet Metab; 2017 Dec; 122(4):172-181. PubMed ID: 29126765
[TBL] [Abstract][Full Text] [Related]
6. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Almalki A; Alston CL; Parker A; Simonic I; Mehta SG; He L; Reza M; Oliveira JM; Lightowlers RN; McFarland R; Taylor RW; Chrzanowska-Lightowlers ZM
Biochim Biophys Acta; 2014 Jan; 1842(1):56-64. PubMed ID: 24161539
[TBL] [Abstract][Full Text] [Related]
7. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
Zadjali F; Al-Yahyaee A; Al-Nabhani M; Al-Mubaihsi S; Gujjar A; Raniga S; Al-Maawali A
Hum Mutat; 2018 Oct; 39(10):1355-1359. PubMed ID: 30014610
[TBL] [Abstract][Full Text] [Related]
8. Enrichment and characterization of the mRNAs of four aminoacyl-tRNA synthetases from yeast.
Sellami M; Rether B; Gangloff J; Ebel JP; Bonnet J
Nucleic Acids Res; 1983 May; 11(10):3269-82. PubMed ID: 6344009
[TBL] [Abstract][Full Text] [Related]
9. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Glamuzina E; Brown R; Hogarth K; Saunders D; Russell-Eggitt I; Pitt M; de Sousa C; Rahman S; Brown G; Grunewald S
J Inherit Metab Dis; 2012 May; 35(3):459-67. PubMed ID: 22086604
[TBL] [Abstract][Full Text] [Related]
10. Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.
González-Serrano LE; Karim L; Pierre F; Schwenzer H; Rötig A; Munnich A; Sissler M
J Biol Chem; 2018 Aug; 293(35):13604-13615. PubMed ID: 30006346
[TBL] [Abstract][Full Text] [Related]
11. Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Al Balushi A; Matviychuk D; Jobling R; Salomons GS; Blaser S; Mercimek-Andrews S
JIMD Rep; 2020 Jan; 51(1):3-10. PubMed ID: 32071833
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Elo JM; Yadavalli SS; Euro L; Isohanni P; Götz A; Carroll CJ; Valanne L; Alkuraya FS; Uusimaa J; Paetau A; Caruso EM; Pihko H; Ibba M; Tyynismaa H; Suomalainen A
Hum Mol Genet; 2012 Oct; 21(20):4521-9. PubMed ID: 22833457
[TBL] [Abstract][Full Text] [Related]
13. Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Oswald SL; Steinbrücker K; Achleitner MT; Göschl E; Bittner RE; Schmidt WM; Tiefenthaler E; Hammerl E; Eisl A; Mayr D; Mayr JA; Wortmann SB
Neuropediatrics; 2023 Oct; 54(5):351-355. PubMed ID: 36603837
[TBL] [Abstract][Full Text] [Related]
14. Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Ni M; Black LF; Pan C; Vu H; Pei J; Ko B; Cai L; Solmonson A; Yang C; Nugent KM; Grishin NV; Xing C; Roeder E; DeBerardinis RJ
J Inherit Metab Dis; 2021 Jul; 44(4):949-960. PubMed ID: 33855712
[TBL] [Abstract][Full Text] [Related]
15. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L; Hamilton EM; Linnankivi T; Uziel G; Steenweg ME; Isohanni P; Wolf NI; Krägeloh-Mann I; Brautaset NJ; Andrews PI; de Jong BA; al Ghamdi M; van Wieringen WN; Tannous BA; Hulleman E; Würdinger T; van Berkel CG; Polder E; Abbink TE; Struys EA; Scheper GC; van der Knaap MS;
Brain; 2014 Apr; 137(Pt 4):1019-29. PubMed ID: 24566671
[TBL] [Abstract][Full Text] [Related]
16. Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C; Diodato D; Kevelam SH; Haack TB; Wong LJ; Salomons GS; Baruffini E; Melchionda L; Mariotti C; Strom TM; Meitinger T; Prokisch H; Chapman K; Colley A; Rocha H; Ounap K; Schiffmann R; Salsano E; Savoiardo M; Hamilton EM; Abbink TE; Wolf NI; Ferrero I; Lamperti C; Zeviani M; Vanderver A; Ghezzi D; van der Knaap MS
Neurology; 2014 Jun; 82(23):2063-71. PubMed ID: 24808023
[TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara E; Rokicki D; Lazniewski M; Mierzewska H; Jurkiewicz E; Bekiesińska-Figatowska M; Piekutowska-Abramczuk D; Iwanicka-Pronicka K; Szymańska E; Stawiński P; Kosińska J; Pollak A; Pronicki M; Plewczyński D; Płoski R; Pronicka E
J Hum Genet; 2018 Apr; 63(4):473-485. PubMed ID: 29410512
[TBL] [Abstract][Full Text] [Related]
18. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Walker MA; Mohler KP; Hopkins KW; Oakley DH; Sweetser DA; Ibba M; Frosch MP; Thibert RL
J Child Neurol; 2016 Aug; 31(9):1127-37. PubMed ID: 27095821
[TBL] [Abstract][Full Text] [Related]
19. FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Cho JS; Kim SH; Kim HY; Chung T; Kim D; Jang S; Lee SB; Yoo SK; Shin J; Kim JI; Kim H; Hwang H; Chae JH; Choi J; Kim KJ; Lim BC
Epilepsy Res; 2017 Jan; 129():118-124. PubMed ID: 28043061
[TBL] [Abstract][Full Text] [Related]
20. A genetic study of erythrocyte arginine-tRNA synthetase activity in man.
McCune SA; Yu PL; Nance WE
Acta Genet Med Gemellol (Roma); 1977; 26(1):21-7. PubMed ID: 562050
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]