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2016 1
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2018 4
2019 9
2020 3
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Page 1
Genetic approaches to the treatment of inherited neuromuscular diseases.
Ravi B, Antonellis A, Sumner CJ, Lieberman AP. Ravi B, et al. Hum Mol Genet. 2019 Oct 1;28(R1):R55-R64. doi: 10.1093/hmg/ddz131. Hum Mol Genet. 2019. PMID: 31227836 Free PMC article. Review.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Morelli KH, et al. J Clin Invest. 2019 Dec 2;129(12):5568-5583. doi: 10.1172/JCI130600. J Clin Invest. 2019. PMID: 31557132 Free PMC article.
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
Oprescu SN, Griffin LB, Beg AA, Antonellis A. Oprescu SN, et al. Methods. 2017 Jan 15;113:139-151. doi: 10.1016/j.ymeth.2016.11.013. Epub 2016 Nov 20. Methods. 2017. PMID: 27876679 Free PMC article. Review.
Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.
Kuo ME, Antonellis A. Kuo ME, et al. Trends Genet. 2020 Feb;36(2):105-117. doi: 10.1016/j.tig.2019.11.007. Epub 2019 Dec 12. Trends Genet. 2020. PMID: 31839378 Review.
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Sun C, et al. Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31192300 Free PMC article.
A recurrent GARS mutation causes distal hereditary motor neuropathy.
Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. Lee DC, et al. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22. J Peripher Nerv Syst. 2019. PMID: 31628756 Free PMC article.
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.
Meyer-Schuman R, Antonellis A. Meyer-Schuman R, et al. Hum Mol Genet. 2017 Oct 1;26(R2):R114-R127. doi: 10.1093/hmg/ddx231. Hum Mol Genet. 2017. PMID: 28633377 Free PMC article. Review.
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ, Kuo M, Kenter SB, Gordillo S, Karjosukarso DW, Takase R, Bronk M, Oprescu S, van Ruissen F, Witteveen RJW, Bienfait HME, Breuning M, Verhamme C, Hou YM, de Visser M, Antonellis A, Baas F. Weterman MAJ, et al. Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290. Hum Mol Genet. 2018. PMID: 30124830 Free PMC article.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Williams KB, et al. Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344. Hum Mol Genet. 2019. PMID: 30304524 Free PMC article.
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