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 *

146 related articles for article (PubMed ID: 37151360)

  • 1. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of
    Poquérusse J; Nolan M; Thorburn DR; Van Hove JLK; Friederich MW; Love DR; Taylor J; Powell CA; Minczuk M; Snell RG; Lehnert K; Glamuzina E; Jacobsen JC
    JIMD Rep; 2023 May; 64(3):223-232. PubMed ID: 37151360
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
    Coughlin CR; Scharer GH; Friederich MW; Yu HC; Geiger EA; Creadon-Swindell G; Collins AE; Vanlander AV; Coster RV; Powell CA; Swanson MA; Minczuk M; Van Hove JL; Shaikh TH
    J Med Genet; 2015 Aug; 52(8):532-40. PubMed ID: 25787132
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the electro-clinical phenotype of
    Kapoor D; Majethia P; Anand A; Shukla A; Sharma S
    Epilepsy Behav Rep; 2021; 16():100485. PubMed ID: 34704010
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
    Hallmann K; Zsurka G; Moskau-Hartmann S; Kirschner J; Korinthenberg R; Ruppert AK; Ozdemir O; Weber Y; Becker F; Lerche H; Elger CE; Thiele H; Nürnberg P; Sander T; Kunz WS
    Neurology; 2014 Dec; 83(23):2183-7. PubMed ID: 25361775
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Whole exome sequencing identified five novel variants in
    Abdulkareem AA; Zaman Q; Khan H; Khan S; Rehman G; Tariq N; Ahmad M; Owais M; Najumuddin ; Muthaffar OY; Bibi F; Khang R; Ryu SW; Naseer MI; Jelani M
    Front Genet; 2023; 14():1185065. PubMed ID: 37359369
    [No Abstract]   [Full Text] [Related]  

  • 8. Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
    Vantroys E; Smet J; Vanlander AV; Vergult S; De Bruyne R; Roels F; Stepman H; Roeyers H; Menten B; Van Coster R
    Orphanet J Rare Dis; 2018 May; 13(1):80. PubMed ID: 29783990
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.
    Chan DL; Rudinger-Thirion J; Frugier M; Riley LG; Ho G; Kothur K; Mohammad SS
    Brain Dev; 2022 Feb; 44(2):142-147. PubMed ID: 34774383
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a Novel Variant in
    Barbosa-Gouveia S; González-Vioque E; Hermida Á; Suarez MU; Martínez-González MJ; Borges F; Wintjes L; Kappen A; Rodenburg R; Couce ML
    Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887222
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
    Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
    Mol Genet Genomic Med; 2019 Jun; 7(6):e654. PubMed ID: 30920170
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
    Wortmann SB; Timal S; Venselaar H; Wintjes LT; Kopajtich R; Feichtinger RG; Onnekink C; Mühlmeister M; Brandt U; Smeitink JA; Veltman JA; Sperl W; Lefeber D; Pruijn G; Stojanovic V; Freisinger P; V Spronsen F; Derks TG; Veenstra-Knol HE; Mayr JA; Rötig A; Tarnopolsky M; Prokisch H; Rodenburg RJ
    Hum Mutat; 2017 Dec; 38(12):1786-1795. PubMed ID: 28905505
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].
    Wu TH; Peng J; Zhang CL; Wu LW; Yang LF; Peng P; Pang N; Yin F; He F
    Zhongguo Dang Dai Er Ke Za Zhi; 2020 Jun; 22(6):595-601. PubMed ID: 32571458
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
    Yin X; Tang B; Mao X; Peng J; Zeng S; Wang Y; Jiang H; Li N
    J Hum Genet; 2018 Sep; 63(9):971-980. PubMed ID: 29915213
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel acceptor stem variant in mitochondrial tRNA
    Kripps KA; Friederich MW; Chen T; Larson AA; Mirsky DM; Wang Y; Tanji K; Knight KM; Wong LJ; Van Hove JLK
    Mol Genet Metab; 2020 Dec; 131(4):398-404. PubMed ID: 33279411
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
    Scheidecker S; Bär S; Stoetzel C; Geoffroy V; Lannes B; Rinaldi B; Fischer F; Becker HD; Pelletier V; Pagan C; Acquaviva-Bourdain C; Kremer S; Mirande M; Tranchant C; Muller J; Friant S; Dollfus H
    Hum Mutat; 2019 Oct; 40(10):1826-1840. PubMed ID: 31116475
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Role of Mutations of Mitochondrial Aminoacyl-tRNA Synthetases Genes on Epileptogenesis.
    Kong LY; Wu YZ; Cheng RQ; Wang PH; Peng BW
    Mol Neurobiol; 2023 Sep; 60(9):5482-5492. PubMed ID: 37316759
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.