खोज परिणाम - Laura D. Heckman
- प्रदर्शित 1 - 3 परिणाम 3
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Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results द्वारा 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
प्रकाशित 2024Artigo -
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Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing द्वारा 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
प्रकाशित 2017Artigo
खोज साधन:
संबंधित विषय
Biology
Gene
Genetics
Mutation
Dementia
Disease
Exonuclease
Frontotemporal dementia
Frontotemporal lobar degeneration
Gene duplication
Internal medicine
MECP2
Medicine
Multiple myeloma
Mutant
Oncology
Pathology
Phenotype
Polymerase
Pomalidomide
RNA
RNA-dependent RNA polymerase
Rett syndrome
Small nuclear RNA
Thalidomide