Canlyniadau Chwilio - Antonellis, Anthony

To Charge or Not to Charge: Mechanistic Insights into Neuropathy-Associated tRNA Synthetase Mutations gan Wallen, Rachel C., Antonellis, Anthony

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Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease gan Meyer-Schuman, Rebecca, Antonellis, Anthony

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Ubiquitously expressed proteins and restricted phenotypes: exploring cell-specific sensitivities to impaired tRNA charging gan Kuo, Molly E., Antonellis, Anthony

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Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy gan Meyer-Schuman, Rebecca, Antonellis, Anthony

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Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia without Leukoencephalopathy gan Kuo, Molly E., Antonellis, Anthony, Shakkottai, Vikram G.

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SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells gan Fogarty, Elizabeth A., Kitzman, Jacob O., Antonellis, Anthony

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Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease gan Malissovas, Nikos, Griffin, Laurie B., Antonellis, Anthony, Beis, Dimitris

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A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve gan Law, William D., Fogarty, Elizabeth A., Vester, Aimée, Antonellis, Anthony

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Genetic approaches to the treatment of inherited neuromuscular diseases gan Ravi, Bhavya, Antonellis, Anthony, Sumner, Charlotte J, Lieberman, Andrew P

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A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures gan Griffin, Laurie Beth, Farley, Frances A., Antonellis, Anthony, Keegan, Catherine E.

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Predicting the Pathogenicity of Aminoacyl-tRNA Synthetase Mutations gan Oprescu, Stephanie N., Griffin, Laurie B., Beg, Asim A., Antonellis, Anthony

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Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases gan Garin, Shahar, Levi, Ofri, Forrest, Megan E., Antonellis, Anthony, Arava, Yoav S.

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Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region gan Brewer, Megan, Changi, Febriani, Antonellis, Anthony, Fischbeck, Kurt, Polly, Patsie, Nicholson, Garth, Kennerson, Marina

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RE-ANALYSIS OF AN ORIGINAL CMTX3 FAMILY USING EXOME SEQUENCING IDENTIFIES A KNOWN BSCL2 MUTATION gan CHAUDHRY, RABIA, KIDAMBI, ADITI, BREWER, MEGAN HWA, ANTONELLIS, ANTHONY, MATHEWS, KATHERINE, NICHOLSON, GARTH, KENNERSON, MARINA

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Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease gan Antonellis, Anthony, Oprescu, Stephanie N., Griffin, Laurie B., Heider, Amer, Amalfitano, Andrea, Innis, Jeffrey W.

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A recurrent GARS mutation causes distal hereditary motor neuropathy gan Lee, Diana C., Meyer-Schuman, Rebecca, Bacon, Chelsea, Shy, Michael E., Antonellis, Anthony, Scherer, Steven S.

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OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development gan Bando, Hironori, Carvalho, Luciani, Bohnsack, Brenda, Moreira, Michele, Antonellis, Anthony, Arnhold, Ivo, Camper, Sally, Gergics, Peter

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Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay gan Orenstein, Naama, Weiss, Karin, Oprescu, Stephanie N., Shapira, Rivka, Kidron, Dvora, Vanagaite-Basel, Lina, Antonellis, Anthony, Muenke, Maximilian

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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy) gan Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.

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An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10 gan Dutton, James R, Antonellis, Anthony, Carney, Thomas J, Rodrigues, Frederico SLM, Pavan, William J, Ward, Andrew, Kelsh, Robert N

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