检索结果 - Laura D. Heckman

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  1. 1
    Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

    Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice 由 Laura D. Heckman, Maria H. Chahrour, Huda Y. Zoghbi

    出版 2014
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  2. 2
    Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results

    Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results 由 Jeffrey Sevigny, Olga Uspenskaya, Laura D. Heckman, Li Chin Wong, Daniel A. Hatch, Ambika Tewari, Rik Vandenberghe, David J. Irwin, Dario Saracino, Isabelle Le Ber, Rebekah M. Ahmed, Jonathan D. Rohrer, Adam L. Boxer, Sebastian Boland, Patricia Sheehan, Alissa Brandes, Suzanne R. Burstein, Benjamin Shykind, Sitharthan Kamalakaran, Carter W. Daniels, E. David Litwack, Erin Mahoney, Jenny Velaga, Ilan McNamara, Patricia Sondergaard, Syed Sajjad, Yvonne M. Kobayashi, Asa Abeliovich, Franz Hefti

    出版 2024
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    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing 由 Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    出版 2017
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