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 *

182 related articles for article (PubMed ID: 29915213)

  • 1. 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]  

  • 2. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
    Mizuguchi T; Nakashima M; Kato M; Yamada K; Okanishi T; Ekhilevitch N; Mandel H; Eran A; Toyono M; Sawaishi Y; Motoi H; Shiina M; Ogata K; Miyatake S; Miyake N; Saitsu H; Matsumoto N
    J Hum Genet; 2017 Apr; 62(5):525-529. PubMed ID: 28077841
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
    Licchetta L; Di Giorgi L; Santucci M; Taruffi L; Stipa C; Minardi R; Carelli V; Bisulli F
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2311. PubMed ID: 38087948
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
    Shen YW; Weng ZF; He W; Chen YH; Wang QH; Zou LP; Liu LY; Shang-Guan HK
    Zhonghua Er Ke Za Zhi; 2020 Dec; 58(12):1006-1012. PubMed ID: 33256324
    [No Abstract]   [Full Text] [Related]  

  • 10. Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
    Okamoto N; Miya F; Tsunoda T; Kanemura Y; Saitoh S; Kato M; Yanagi K; Kaname T; Kosaki K
    Neurol Sci; 2022 Apr; 43(4):2765-2774. PubMed ID: 34585293
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
    Zhang X; Ling J; Barcia G; Jing L; Wu J; Barry BJ; Mochida GH; Hill RS; Weimer JM; Stein Q; Poduri A; Partlow JN; Ville D; Dulac O; Yu TW; Lam AT; Servattalab S; Rodriguez J; Boddaert N; Munnich A; Colleaux L; Zon LI; Söll D; Walsh CA; Nabbout R
    Am J Hum Genet; 2014 Apr; 94(4):547-58. PubMed ID: 24656866
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
    Rabin R; Hirsch Y; Johansson MM; Ekstein J; Ekstein A; Pappas J
    Am J Med Genet A; 2021 May; 185(5):1589-1597. PubMed ID: 33682303
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
    Gerard A; Mizerik E; Mohila CA; AlAwami S; Hunter JV; Kearney DL; Lalani SR; Scaglia F
    Am J Med Genet A; 2024 Jul; 194(7):e63589. PubMed ID: 38469956
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
    Itoh M; Dai H; Horike SI; Gonzalez J; Kitami Y; Meguro-Horike M; Kuki I; Shimakawa S; Yoshinaga H; Ota Y; Okazaki T; Maegaki Y; Nabatame S; Okazaki S; Kawawaki H; Ueno N; Goto YI; Kato Y
    Brain; 2019 Mar; 142(3):560-573. PubMed ID: 30715177
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
    Friedman J; Smith DE; Issa MY; Stanley V; Wang R; Mendes MI; Wright MS; Wigby K; Hildreth A; Crawford JR; Koehler AE; Chowdhury S; Nahas S; Zhai L; Xu Z; Lo WS; James KN; Musaev D; Accogli A; Guerrero K; Tran LT; Omar TEI; Ben-Omran T; Dimmock D; Kingsmore SF; Salomons GS; Zaki MS; Bernard G; Gleeson JG
    Nat Commun; 2019 Feb; 10(1):707. PubMed ID: 30755602
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
    Sofou K; Kollberg G; Holmström M; Dávila M; Darin N; Gustafsson CM; Holme E; Oldfors A; Tulinius M; Asin-Cayuela J
    Mol Genet Genomic Med; 2015 Jan; 3(1):59-68. PubMed ID: 25629079
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
    Kodera H; Osaka H; Iai M; Aida N; Yamashita A; Tsurusaki Y; Nakashima M; Miyake N; Saitsu H; Matsumoto N
    J Hum Genet; 2015 Feb; 60(2):97-101. PubMed ID: 25471517
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
    D'Gama AM; England E; Madden JA; Shi J; Chao KR; Wojcik MH; Torres AR; Tan WH; Berry GT; Prabhu SP; Agrawal PB
    Am J Med Genet A; 2021 Jan; 185(1):203-207. PubMed ID: 33037779
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
    Hu X; Guo R; Hao C; Hao L
    Gene; 2024 Feb; 894():147985. PubMed ID: 37956963
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Human aminoacyl-tRNA synthetases in diseases of the nervous system.
    Ognjenović J; Simonović M
    RNA Biol; 2018; 15(4-5):623-634. PubMed ID: 28534666
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.