Search Results - Antonellis, Anthony

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  1. 1
    To Charge or Not to Charge: Mechanistic Insights into Neuropathy-Associated tRNA Synthetase Mutations

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

    Published 2013
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  2. 2
    Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

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

    Published 2017
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  3. 3
    Ubiquitously expressed proteins and restricted phenotypes: exploring cell-specific sensitivities to impaired tRNA charging

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

    Published 2019
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  4. 4
    Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy

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

    Published 2020
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  5. 5
    Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia without Leukoencephalopathy

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

    Published 2020
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  6. 6
    SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

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

    Published 2020
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  7. 7
    Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease

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

    Published 2016
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  8. 8
    A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve

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

    Published 2018
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  9. 9
    Genetic approaches to the treatment of inherited neuromuscular diseases

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

    Published 2019
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  10. 10
    A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures

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

    Published 2016
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  11. 11
    Predicting the Pathogenicity of Aminoacyl-tRNA Synthetase Mutations

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

    Published 2016
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  12. 12
    Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases

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

    Published 2021
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  13. 13
    Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

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

    Published 2008
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  14. 14
    RE-ANALYSIS OF AN ORIGINAL CMTX3 FAMILY USING EXOME SEQUENCING IDENTIFIES A KNOWN BSCL2 MUTATION

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

    Published 2013
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  15. 15
    Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

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

    Published 2018
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  16. 16
    A recurrent GARS mutation causes distal hereditary motor neuropathy

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

    Published 2019
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  17. 17
    OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development

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

    Published 2019
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  18. 18
    Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay

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

    Published 2017
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  19. 19
    A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

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

    Published 2019
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  20. 20
    An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10

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

    Published 2008
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