نتائج البحث - Anthony Antonellis

تنقيح النتائج
  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 حسب Rebecca Meyer‐Schuman, Anthony Antonellis

    منشور في 2017
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

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

    منشور في 2016
    احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  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 حسب Anthony Antonellis, Stephanie N. Oprescu, Laurie B. Griffin, Amer Heider, Andrea Amalfitano, Jeffrey W. Innis

    منشور في 2018
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب Laurie B. Griffin, Reiko Sakaguchi, David B. McGuigan, Michael Gonzalez, Charles Searby, Stephan Züchner, Ya‐Ming Hou, Anthony Antonellis

    منشور في 2014
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب Tomasz Klupa, James H. Warram, Anthony Antonellis, Marcus G. Pezzolesi, Moonsuk Nam, Maciej T. Małecki, Alessandro Doria, Stephen S. Rich, Andrzej S. Królewski

    منشور في 2002
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب James R. Dutton, Anthony Antonellis, Thomas J. Carney, Frederico S. L. M. Rodrigues, William J. Pavan, Andrew Ward, Robert N. Kelsh

    منشور في 2008
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب Camila Lopez‐Anido, Yannick Poitelon, Chetna Gopinath, John J. Moran, Ki H., William D. Law, Anthony Antonellis, M. Laura Feltri, John Svaren

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess

    منشور في 2010
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Mutation of melanosome protein RAB38 in <i>chocolate</i> mice

    Mutation of melanosome protein RAB38 in <i>chocolate</i> mice حسب 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

    منشور في 2002
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2006
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2004
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2013
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2008
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2011
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

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

    منشور في 2005
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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) حسب 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

    منشور في 2011
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    <i>Gpnmb</i> is a melanoblast‐expressed, MITF‐dependent gene

    <i>Gpnmb</i> is a melanoblast‐expressed, MITF‐dependent gene حسب 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

    منشور في 2008
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  18. 18
    SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

    SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer حسب 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

    منشور في 2011
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2012
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  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 حسب 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

    منشور في 2003
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: