Resultados da busca - Pedro Gonzalez‐Alegre

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  1. 1
    Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia

    Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia por Pedro Gonzalez‐Alegre, Henry L. Paulson

    Publicado em 2004
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  2. 2
    Toward therapy for DYT1 dystonia: Allele‐specific silencing of mutant TorsinA

    Toward therapy for DYT1 dystonia: Allele‐specific silencing of mutant TorsinA por Pedro Gonzalez‐Alegre, Victor M. Miller, Beverly L. Davidson, Henry L. Paulson

    Publicado em 2003
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  3. 3
    Silencing Primary Dystonia: Lentiviral-Mediated RNA Interference Therapy for DYT1 Dystonia

    Silencing Primary Dystonia: Lentiviral-Mediated RNA Interference Therapy for DYT1 Dystonia por Pedro Gonzalez‐Alegre, Nicole M. Bode, Beverly L. Davidson, Henry L. Paulson

    Publicado em 2005
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  4. 4
    Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties

    Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties por Ginny Marie Harris, Katerina Dodelzon, Lijie Gong, Pedro Gonzalez‐Alegre, Henry L. Paulson

    Publicado em 2010
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  5. 5
    RNAi prevents and reverses phenotypes induced by mutant human ataxin‐1

    RNAi prevents and reverses phenotypes induced by mutant human ataxin‐1 por Megan S. Keiser, Alejandro Mas Monteys, Romuald Corbau, Pedro Gonzalez‐Alegre, Beverly L. Davidson

    Publicado em 2016
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  6. 6
    Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design

    Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design por Jennifer Martin, N Wolken, Timothy Brown, William T. Dauer, Michelle E. Ehrlich, Pedro Gonzalez‐Alegre

    Publicado em 2011
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  7. 7
    DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing

    DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing por Fang Li, Qian Liu, Alex Mas Monteys, Pedro Gonzalez‐Alegre, Beverly L. Davidson, Kai Wang

    Publicado em 2022
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  8. 8
    A Functional Role for TorsinA in Herpes Simplex Virus 1 Nuclear Egress

    A Functional Role for TorsinA in Herpes Simplex Virus 1 Nuclear Egress por Martina Maric, Jianqiang Shao, Randi J. Ryan, Chun-Shu Wong, Pedro Gonzalez‐Alegre, Richard J. Roller

    Publicado em 2011
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  9. 9
    Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1<i>Knock-in</i>Mice Implicates Novel Pathways in Dystonia Pathogenesis

    Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1<i>Knock-in</i>Mice Implicates Novel Pathways in Dystonia Pathogenesis por Geneviève Beauvais, Nicole M. Bode, Jaime L. Watson, Hsiang Wen, Kevin A. Glenn, Hiroyuki Kawano, Nobutoshi Harata, Michelle E. Ehrlich, Pedro Gonzalez‐Alegre

    Publicado em 2016
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  10. 10
    Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (ΔE) TorsinA in transgenic mice

    Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (ΔE) TorsinA in transgenic mice por Michelle E. Page, Bao Li, Pierrette André, Joshua Pelta‐Heller, Emily Sluzas, Pedro Gonzalez‐Alegre, Alexey Bogush, Loren E. Khan, Lorraine Iacovitti, Margaret E. Rice, Michelle E. Ehrlich

    Publicado em 2010
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  11. 11
    Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

    Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions por Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Geneviève Beauvais, Thomas P. Zwaka, Laurie J. Ozelius, Robert D. Blitzer, Pedro Gonzalez‐Alegre, Michelle E. Ehrlich

    Publicado em 2018
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  12. 12
    Abnormalities of motor function, transcription and cerebellar structure in mouse models of<i>THAP1</i>dystonia

    Abnormalities of motor function, transcription and cerebellar structure in mouse models of<i>THAP1</i>dystonia por Marta Ruiz, Georgina Pérez-García, Maitane Ortiz‐Virumbrales, Aurélie Méneret, Andrika Morant, Jessica Kottwitz, Tania Fuchs, Justine Bonet, Pedro Gonzalez‐Alegre, Patrick R. Hof, Laurie J. Ozelius, Michelle E. Ehrlich

    Publicado em 2015
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  13. 13
    Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain

    Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain por Megan S. Keiser, Paul T. Ranum, Carolyn M. Yrigollen, Ellie M. Carrell, Geary R. Smith, Amy Muehlmatt, Yong Hong Chen, Joel M. Stein, Ronald L. Wolf, Enrico Radaelli, Timothy Lucas, Pedro Gonzalez‐Alegre, Beverly L. Davidson

    Publicado em 2021
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  14. 14
    Microdystrophin Expression as a Surrogate Endpoint for Duchenne Muscular Dystrophy Clinical Trials

    Microdystrophin Expression as a Surrogate Endpoint for Duchenne Muscular Dystrophy Clinical Trials por Jeffrey S. Chamberlain, Melissa A. Robb, Serge Braun, Kristy J. Brown, Olivier Danos, Annie Ganot, Pedro Gonzalez‐Alegre, Nina Hunter, Craig M. McDonald, Carl Morris, Mark Tobolowsky, Kathryn R. Wagner, Olivia Ziolkowski, Dongsheng Duan

    Publicado em 2023
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  15. 15
    Sex‐specific effects of the Huntington gene on normal neurodevelopment

    Sex‐specific effects of the Huntington gene on normal neurodevelopment por Jessica K. Lee, Yue Ding, Amy L. Conrad, Elena Cattaneo, Eric A. Epping, Katherine D. Mathews, Pedro Gonzalez‐Alegre, Larry Cahill, Vincent A. Magnotta, Bradley L. Schlaggar, Joel S. Perlmutter, Regina E. Y. Kim, Jeffrey D. Dawson, Peg Nopoulos

    Publicado em 2016
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  16. 16
    Delineation of the motor disorder of Lesch–Nyhan disease

    Delineation of the motor disorder of Lesch–Nyhan disease por Hyder A. Jinnah, Jasper E. Visser, James C. Harris, Alfonso Verdú, Laura E. Laróvere, Irène Ceballos-Picot, Pedro Gonzalez‐Alegre, Vladimir Neychev, Rosa J. Torres, Olivier Dulac, Isabelle Desguerre, David J. Schretlen, Kenneth L. Robey, Gabor Barabas, Bastiaan R. Bloem, William L. Nyhan, Raquel de Kremer, Gary E. Eddey, Juan Puig, Stephen G. Reich

    Publicado em 2006
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  17. 17
    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome por Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez‐Alegre, Hilary Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Çırak, Thomas Voït, Matthew P. Scott, Jeffrey D. Axelrod, Christina A. Gurnett, Azhar S. Daoud, Sara Kivity, Miriam Y. Neufeld, Aziz Mazarib, Rachel Straussberg, Simri Walid, Amos D. Korczyn, Diane C. Slusarski, Samuel F. Berkovic, Hatem El‐Shanti

    Publicado em 2008
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  18. 18
    Clinical and genetic features of cervical dystonia in a large multicenter cohort

    Clinical and genetic features of cervical dystonia in a large multicenter cohort por Mark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, Hyder A. Jinnah, Ami Rosen, Peter Hedera, Cynthia Comella, Anne Weißbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad Stover, Laura Marsh, Ludy C. Shih, Susan Bressman, Stewart A. Factor, Marie Vidailhet, Emmanuel Roze, Zoltán Mari, Charles Adler, Mark Hallett, Vesper Ramos, Stephen Grill, Christopher G. Goetz, Tanya Harlow, Susan H. Fox, David G. Standaert, Oksana Suchowersky, Fatta B. Nahab, Tao Xie, Alberto J. Espay, Michael S. Okun, Pedro Gonzalez‐Alegre, Ergun Uc, Christine Klein, Sarah Pirio Richardson, Alfredo Berardelli, Giovanni Fabbrini, William G. Ondo, Claudia Testa, Alison Brashear, Ronald F. Pfeiffer, Monika Rudzińska, Zbigniew K. Wszołek, Ryan J. Uitti, Jay A. van Gerpen, Robert W. Bastian

    Publicado em 2016
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  19. 19
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study por Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    Publicado em 2020
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