Antonellis A[au] - Search Results

Year	Number of Results
1987	2
1988	2
1998	2
1999	3
2000	1
2002	4
2003	1
2004	2
2005	4
2006	3
2008	5
2009	2
2010	3
2011	8
2012	6
2013	4
2014	2
2015	5
2016	6
2017	5
2018	5
2019	10
2020	6
2021	3
2022	3
2023	1
2024	2

1

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Oprescu SN, Griffin LB, Beg AA, Antonellis A. Oprescu SN, et al. Among authors: antonellis a. 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.

2

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Meyer-Schuman R, Antonellis A. Meyer-Schuman R, et al. Among authors: antonellis a. 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.

3

Genetic approaches to the treatment of inherited neuromuscular diseases.

Ravi B, Antonellis A, Sumner CJ, Lieberman AP. Ravi B, et al. Among authors: antonellis a. 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.

4

The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.

Del Greco C, Antonellis A. Del Greco C, et al. Among authors: antonellis a. Genes (Basel). 2022 Dec 9;13(12):2319. doi: 10.3390/genes13122319. Genes (Basel). 2022. PMID: 36553587 Free PMC article. Review.

5

A novel AARS mutation in a family with dominant myeloneuropathy.

Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. Motley WW, et al. Among authors: antonellis a. Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22. Neurology. 2015. PMID: 25904691 Free PMC article.

6

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.

Meyer-Schuman R, Marte S, Smith TJ, Feely SME, Kennerson M, Nicholson G, Shy ME, Koutmou KS, Antonellis A. Meyer-Schuman R, et al. Among authors: antonellis a. Hum Mol Genet. 2023 Jun 19;32(13):2177-2191. doi: 10.1093/hmg/ddad054. Hum Mol Genet. 2023. PMID: 37010095 Free PMC article.

7

Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.

Kuo ME, Antonellis A. Kuo ME, et al. Among authors: antonellis a. 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 Free PMC article. Review.

8

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Forrest ME, Meyer AP, Laureano Figueroa SM, Antonellis A. Forrest ME, et al. Among authors: antonellis a. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006246. doi: 10.1101/mcs.a006246. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307205 Free PMC article.

9

Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.

Meyer-Schuman R, Antonellis A. Meyer-Schuman R, et al. Among authors: antonellis a. FEBS J. 2021 Jan;288(1):91-94. doi: 10.1111/febs.15538. Epub 2020 Sep 17. FEBS J. 2021. PMID: 32940403 Free PMC article.

10

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. Among authors: antonellis a. 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.

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