These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 27549011)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
    Zhang X; Xiang F; Li D; Yang F; Yu S; Wang X
    BMC Neurol; 2024 Jan; 24(1):15. PubMed ID: 38166857
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
    Li L; Ma J; Wang J; Dong L; Liu S
    Eur J Med Res; 2022 Sep; 27(1):184. PubMed ID: 36155627
    [TBL] [Abstract][Full Text] [Related]  

  • 14. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
    Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
    Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.
    Matsumoto H; Zaha K; Nakamura Y; Hayashi S; Inazawa J; Nonoyama S
    Pediatr Neurol; 2014 Jul; 51(1):170-5. PubMed ID: 24938147
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.
    Chen X; Liu F; Li B; Wang Y; Yuan L; Yin A; Chen Q; Hu W; Yao Y; Zhang M; Wu Y; Chen K
    Cell Biosci; 2022 Jul; 12(1):103. PubMed ID: 35794642
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.