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Year Number of Results
2008 5
2009 2
2010 3
2011 4
2012 2
2013 2
2020 0
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Page 1
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.
Gpnmb is a melanoblast-expressed, MITF-dependent gene.
Loftus SK, Antonellis A, Matera I, Renaud G, Baxter LL, Reid D, Wolfsberg TG, Chen Y, Wang C; NISC Comparative Sequencing Program, Prasad MK, Bessling SL, McCallion AS, Green ED, Bennett DC, Pavan WJ. Loftus SK, et al. Pigment Cell Melanoma Res. 2009 Feb;22(1):99-110. doi: 10.1111/j.1755-148X.2008.00518.x. Epub 2008 Nov 1. Pigment Cell Melanoma Res. 2009. PMID: 18983539 Free PMC article.
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium. Gonzalez M, et al. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1. J Neurol Neurosurg Psychiatry. 2013. PMID: 23729695 Free PMC article.
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. Vester A, et al. Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22930593 Free PMC article.
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Motley WW, et al. PLoS Genet. 2011 Dec;7(12):e1002399. doi: 10.1371/journal.pgen.1002399. Epub 2011 Dec 1. PLoS Genet. 2011. PMID: 22144914 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. 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.
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. 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.
Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer.
Stine ZE, Huynh JL, Loftus SK, Gorkin DU, Salmasi AH, Novak T, Purves T, Miller RA, Antonellis A, Gearhart JP, Pavan WJ, McCallion AS. Stine ZE, et al. Genesis. 2009 Nov;47(11):765-70. doi: 10.1002/dvg.20559. Genesis. 2009. PMID: 19830815 Free PMC article.
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED; NISC Comparative Sequencing Program. Antonellis A, et al. PLoS One. 2010 Dec 16;5(12):e14346. doi: 10.1371/journal.pone.0014346. PLoS One. 2010. PMID: 21179557 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. 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.
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