检索结果 - Jonathan Volpatti
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PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models 由 Nesrin Sabha, Jonathan Volpatti, Hernán Gonorazky, Aaron N. Reifler, Ann E. Davidson, Xingli Li, Nadine Eltayeb, Claudia Dall’Armi, Gilbert Di Paolo, Susan V. Brooks, Ana Buj-Bello, Eva L. Feldman, James J. Dowling
出版 2016Artigo -
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Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications 由 Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury‐Ecob, Sian Ellard, Hana Lango Allen, Emily Yu, Ramil R. Noche, Suzi Walker, Stephen W. Scherer, Sonal Mahida, Christopher M. Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier‐Veber, François Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M. Keppler‐Noreuil, Lucy Drayson, Kristin Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frédéric Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay B. Henderson, Lauren Brady, Mark A. Tarnopolsky, Matthew N. Bainbridge, Jennifer Friedman, Yline Capri, Larissa Sampaio de Athayde, Fernando Kok, Juliana Gurgel‐Giannetti, Luiza Ramos, Susan Blaser, James J. Dowling, Rosanna Weksberg
出版 2022Artigo