檢索結果 - Antonellis, Anthony

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文