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The role of aminoacyl-tRNA synthetases in genetic diseases.
Antonellis A, Green ED. Antonellis A, et al. Annu Rev Genomics Hum Genet. 2008;9:87-107. doi: 10.1146/annurev.genom.9.081307.164204. Annu Rev Genomics Hum Genet. 2008. PMID: 18767960 Review.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer.
Portnoy ME, McDermott KJ, Antonellis A, Margulies EH, Prasad AB; NISC Comparative Sequencing Program, Kingsley DM, Green ED, Mortlock DP. Portnoy ME, et al. Among authors: antonellis a. Genomics. 2005 Sep;86(3):295-305. doi: 10.1016/j.ygeno.2005.05.003. Genomics. 2005. PMID: 15979840
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome.
Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ; NISC Comparative Sequencing Program, Green ED, Paisley D, Kelsh RN, Pavan WJ, Ward A. Antonellis A, et al. Hum Mol Genet. 2006 Jan 15;15(2):259-71. doi: 10.1093/hmg/ddi442. Epub 2005 Dec 5. Hum Mol Genet. 2006. PMID: 16330480
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB. Riazuddin S, et al. Among authors: antonellis a. Am J Hum Genet. 2006 Jan;78(1):137-43. doi: 10.1086/499164. Epub 2005 Nov 21. Am J Hum Genet. 2006. PMID: 16385457 Free PMC article.
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Antonellis A, et al. J Neurosci. 2006 Oct 11;26(41):10397-406. doi: 10.1523/JNEUROSCI.1671-06.2006. J Neurosci. 2006. PMID: 17035524 Free PMC article.
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.
Antonellis A, Huynh JL, Lee-Lin SQ, Vinton RM, Renaud G, Loftus SK, Elliot G, Wolfsberg TG, Green ED, McCallion AS, Pavan WJ. Antonellis A, et al. PLoS Genet. 2008 Sep 5;4(9):e1000174. doi: 10.1371/journal.pgen.1000174. PLoS Genet. 2008. PMID: 18773071 Free PMC article.
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: antonellis a. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.
Stum M, McLaughlin HM, Kleinbrink EL, Miers KE, Ackerman SL, Seburn KL, Antonellis A, Burgess RW. Stum M, et al. Among authors: antonellis a. Mol Cell Neurosci. 2011 Feb;46(2):432-43. doi: 10.1016/j.mcn.2010.11.006. Epub 2010 Nov 27. Mol Cell Neurosci. 2011. PMID: 21115117 Free PMC article.
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. McLaughlin HM, et al. Among authors: antonellis a. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22009580 Free PMC article.
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