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2. A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene. Chen Z; Zhang Y Int J Neurosci; 2019 Nov; 129(11):1094-1097. PubMed ID: 31329004 [TBL] [Abstract][Full Text] [Related]
4. Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. Raviglione F; Conte G; Ghezzi D; Parazzini C; Righini A; Vergaro R; Legati A; Spaccini L; Gasperini S; Garavaglia B; Mastrangelo M Am J Med Genet A; 2016 Nov; 170(11):3004-3007. PubMed ID: 27549011 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. Barcia G; Rio M; Assouline Z; Zangarelli C; Roux CJ; de Lonlay P; Steffann J; Desguerre I; Munnich A; Bonnefont JP; Boddaert N; Rötig A; Metodiev MD; Ruzzenente B Eur J Hum Genet; 2021 Mar; 29(3):533-538. PubMed ID: 33168986 [TBL] [Abstract][Full Text] [Related]
9. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. Vernon HJ; McClellan R; Batista DA; Naidu S Am J Med Genet A; 2015 May; 167A(5):1147-51. PubMed ID: 25851414 [TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease. Chen W; Rehsi P; Thompson K; Yeo M; Stals K; He L; Schimmel P; Chrzanowska-Lightowlers ZMA; Wakeling E; Taylor RW; Kuhle B Mol Genet Metab; 2023 Nov; 140(3):107657. PubMed ID: 37523899 [TBL] [Abstract][Full Text] [Related]
11. Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant. Ville D; Lesca G; Labalme A; Portes VD; Arzimanoglou A; de Bellescize J Epileptic Disord; 2020 Jun; 22(3):327-335. PubMed ID: 32597768 [TBL] [Abstract][Full Text] [Related]
12. FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. Li B; Liu F; Chen X; Chen T; Zhang J; Liu Y; Yao Y; Hu W; Zhang M; Wang B; Liu L; Chen K; Wu Y Circulation; 2024 Apr; 149(16):1268-1284. PubMed ID: 38362779 [TBL] [Abstract][Full Text] [Related]
13. FARS2 Mutations: More Than Two Phenotypes? A Case Report. Hotait M; Nasreddine W; El-Khoury R; Dirani M; Nawfal O; Beydoun A Front Genet; 2020; 11():787. PubMed ID: 32774346 [TBL] [Abstract][Full Text] [Related]
14. 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]
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17. FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism. Fan W; Jin X; Xu M; Xi Y; Lu W; Yang X; Guan MX; Ge W Nucleic Acids Res; 2021 Dec; 49(22):13108-13121. PubMed ID: 34878141 [TBL] [Abstract][Full Text] [Related]
18. A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. Yang Y; Liu W; Fang Z; Shi J; Che F; He C; Yao L; Wang E; Wu Y Hum Mutat; 2016 Feb; 37(2):165-9. PubMed ID: 26553276 [TBL] [Abstract][Full Text] [Related]
19. Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. Kartvelishvili E; Tworowski D; Vernon H; Moor N; Wang J; Wong LJ; Chrzanowska-Lightowlers Z; Safro M Protein Sci; 2017 Aug; 26(8):1505-1516. PubMed ID: 28419689 [TBL] [Abstract][Full Text] [Related]
20. FARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS). Guerrero CM; Bhatia S J Pediatr Neurosci; 2021; 16(4):323-326. PubMed ID: 36531778 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]