Antonellis A - Search Results

1

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.

2

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.

3

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.

Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, Hirschberg CB, Tonetti M. Etzioni A, et al. Among authors: antonellis a. Am J Med Genet. 2002 Jun 15;110(2):131-5. doi: 10.1002/ajmg.10423. Am J Med Genet. 2002. PMID: 12116250

4

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

5

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Sivakumar K, et al. Among authors: antonellis a. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653

6

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

7

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.

8

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.

9

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.

10

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.

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