Similar articles for PMID: 28675565

Year	Number of Results
1996	1
1998	1
2000	1
2001	1
2003	1
2005	1
2006	7
2007	3
2008	1
2009	3
2010	5
2011	4
2012	4
2013	3
2014	8
2015	6
2016	7
2017	8
2018	10
2019	13
2020	5
2021	15
2022	11
2023	6
2024	0

1

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Oprescu SN, et al. Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14. Hum Mutat. 2017. PMID: 28675565 Free PMC article.

2

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Griffin LB, et al. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681. Hum Mutat. 2014. PMID: 25168514 Free PMC article.

3

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS. Kuo ME, et al. Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26. Am J Hum Genet. 2019. PMID: 30824121 Free PMC article.

4

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T. Rips J, et al. Eur J Med Genet. 2018 Oct;61(10):616-620. doi: 10.1016/j.ejmg.2018.04.005. Epub 2018 Apr 12. Eur J Med Genet. 2018. PMID: 29655802 Free PMC article.

5

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.

6

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. Ermanoska B, et al. Neurobiol Dis. 2014 Aug;68:180-9. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5. Neurobiol Dis. 2014. PMID: 24807208 Free PMC article.

7

Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.

Nan H, Takaki R, Hata T, Ichinose Y, Tsuchiya M, Koh K, Takiyama Y. Nan H, et al. J Peripher Nerv Syst. 2019 Mar;24(1):156-160. doi: 10.1111/jns.12289. Epub 2018 Nov 23. J Peripher Nerv Syst. 2019. PMID: 30394614

8

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

McMillan HJ, Schwartzentruber J, Smith A, Lee S, Chakraborty P, Bulman DE, Beaulieu CL, Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. BMC Med Genet. 2014 Mar 26;15:36. doi: 10.1186/1471-2350-15-36. BMC Med Genet. 2014. PMID: 24669931 Free PMC article.

9

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW. Antonellis A, et al. Hum Mutat. 2018 Jun;39(6):834-840. doi: 10.1002/humu.23424. Epub 2018 Apr 10. Hum Mutat. 2018. PMID: 29573043 Free PMC article.

10

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.

Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM. Achilli F, et al. Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73. doi: 10.1242/dmm.002527. Epub 2009 May 26. Dis Model Mech. 2009. PMID: 19470612 Free PMC article.

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