Resultats de la cerca - Anthony Antonellis

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  1. 1
    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 per Rebecca Meyer‐Schuman, Anthony Antonellis

    Publicat 2017
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  2. 2
    Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

    Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations per Stephanie N. Oprescu, Laurie B. Griffin, Asim A. Beg, Anthony Antonellis

    Publicat 2016
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  3. 3
    Compound heterozygosity for loss-of-function <i>FARSB</i> variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

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

    Publicat 2018
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  4. 4
    Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

    Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations per Laurie B. Griffin, Reiko Sakaguchi, David B. McGuigan, Michael Gonzalez, Charles Searby, Stephan Züchner, Ya‐Ming Hou, Anthony Antonellis

    Publicat 2014
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  5. 5
    Determinants of the Development of Diabetes (Maturity-Onset Diabetes of the Young-3) in Carriers of <i>HNF-1</i>α Mutations

    Determinants of the Development of Diabetes (Maturity-Onset Diabetes of the Young-3) in Carriers of <i>HNF-1</i>α Mutations per Tomasz Klupa, James H. Warram, Anthony Antonellis, Marcus G. Pezzolesi, Moonsuk Nam, Maciej T. Małecki, Alessandro Doria, Stephen S. Rich, Andrzej S. Królewski

    Publicat 2002
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  6. 6
    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 per James R. Dutton, Anthony Antonellis, Thomas J. Carney, Frederico S. L. M. Rodrigues, William J. Pavan, Andrew Ward, Robert N. Kelsh

    Publicat 2008
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  7. 7
    Tead1 regulates the expression of<i>Peripheral Myelin Protein 22</i>during Schwann cell development

    Tead1 regulates the expression of<i>Peripheral Myelin Protein 22</i>during Schwann cell development per Camila Lopez‐Anido, Yannick Poitelon, Chetna Gopinath, John J. Moran, Ki H., William D. Law, Anthony Antonellis, M. Laura Feltri, John Svaren

    Publicat 2016
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  8. 8
    An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

    An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations per Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess

    Publicat 2010
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  9. 9
    Mutation of melanosome protein RAB38 in <i>chocolate</i> mice

    Mutation of melanosome protein RAB38 in <i>chocolate</i> mice per Stacie K. Loftus, Denise M. Larson, Laura L. Baxter, Anthony Antonellis, Yidong Chen, Xufeng Wu, Yuan Jiang, Michael Bittner, John A. Hammer, William J. Pavan

    Publicat 2002
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  10. 10
    Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

    Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons per Anthony Antonellis, Shih-Queen Lee-Lin, Amy S. Wasterlain, Paul Leo, Martha Quezado, Lev G. Goldfarb, Kyungjae Myung, Shawn M. Burgess, Kenneth H. Fischbeck, Eric D. Green

    Publicat 2006
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  11. 11
    SAP Regulates TH2 Differentiation and PKC-θ-Mediated Activation of NF-κB1

    SAP Regulates TH2 Differentiation and PKC-θ-Mediated Activation of NF-κB1 per Jennifer L. Cannons, Li J. Yu, Brenna J. Hill, Lilia A. Mijares, Derek Dombroski, Kim E. Nichols, Anthony Antonellis, Gary A. Koretzky, Kevin Gardner, Pamela L. Schwartzberg

    Publicat 2004
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  12. 12
    Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (<i>MARS</i>) in a family with late-onset CMT2

    Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (<i>MARS</i>) in a family with late-onset CMT2 per Michael Gonzalez, Heather M. McLaughlin, Henry Houlden, Min Guo, Yo‐Tsen Liu, Marios Hadjivassilious, Fiorella Speziani, Xiang‐Lei Yang, Anthony Antonellis, Mary M. Reilly, Stephan Züchner

    Publicat 2013
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  13. 13
    Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish

    Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish per Anthony Antonellis, Jimmy Huynh, Shih-Queen Lee-Lin, Ryan M. Vinton, Gabriel Renaud, Stacie K. Loftus, Gene Elliot, Tyra G. Wolfsberg, Eric D. Green, Andrew S. McCallion, William J. Pavan

    Publicat 2008
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  14. 14
    Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

    Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels per William W. Motley, Kevin L. Seburn, Mir Hussain Nawaz, Kathy E. Miers, Jun Cheng, Anthony Antonellis, Eric D. Green, Kevin Talbot, Xiang‐Lei Yang, Kenneth H. Fischbeck, Robert W. Burgess

    Publicat 2011
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  15. 15
    Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

    Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations per Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, Garth A. Nicholson, Benoît Funalot, Anthony Antonellis, Nyamkhishig Sambuughin, Kyproula Christodoulou, John L. Beggs, Eleni Zamba‐Papanicolaou, Victor Ionâşescu, Marinos C. Dalakas, Eric D. Green, Kenneth H. Fischbeck, Lev G. Goldfarb

    Publicat 2005
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  16. 16
    A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

    A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N) per Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, Thomas E. Wilson, Leslie G. Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi‐Chung Lee, Marina Kennerson, Ya‐Ming Hou, Garth A. Nicholson, Anthony Antonellis

    Publicat 2011
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  17. 17
    <i>Gpnmb</i> is a melanoblast‐expressed, MITF‐dependent gene

    <i>Gpnmb</i> is a melanoblast‐expressed, MITF‐dependent gene per Stacie K. Loftus, Anthony Antonellis, Ivana Matera, Gabriel Renaud, Laura L. Baxter, Duncan Reid, Tyra G. Wolfsberg, Yidong Chen, Chenwei Wang, Megana Prasad, Seneca L. Bessling, Andrew S. McCallion, Eric D. Green, Dorothy C. Bennett, William J. Pavan

    Publicat 2008
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  18. 18
    SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

    SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer per Megana Prasad, Xylena Reed, David U. Gorkin, Julia C. Cronin, Anthony R. McAdow, Kristopher H. Chain, Chani J. Hodonsky, Erin A. Jones, John Svaren, Anthony Antonellis, Stephen L. Johnson, Stacie K. Loftus, William J. Pavan, Andrew S. McCallion

    Publicat 2011
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  19. 19
    A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (<i>HARS</i>) Gene is Neurotoxic In Vivo

    A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (<i>HARS</i>) Gene is Neurotoxic In Vivo per Aimée Vester, Gisselle A. Vélez-Ruiz, Heather M. McLaughlin, NISC Comparative Sequencing Program, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Ricardo H. Roda, Kenneth H. Fischbeck, Leslie G. Biesecker, Garth A. Nicholson, Asim A. Beg, Anthony Antonellis

    Publicat 2012
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  20. 20
    Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

    Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V per Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos Middleton, Kumaraswamy Sivakumar, Victor Ionâşescu, Benoît Funalot, Jeffery M. Vance, Lev G. Goldfarb, Kenneth H. Fischbeck, Eric D. Green

    Publicat 2003
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