Search Results - Martina Bebin
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Final analysis of potential drug–drug interactions between highly purified cannabidiol and anti‐seizure medications in an open‐label expanded access program by Tyler E. Gaston, E. Martina Bebin, Gary R. Cutter, Leslie Grayson, Jerzy P. Szaflarski
Published in Epilepsia Open (2023-12-01)Get full text
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Long‐term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3‐year results from the cannabidiol expanded access program by Arie Weinstock, E. Martina Bebin, Daniel Checketts, Gary D. Clark, Jerzy P. Szaflarski, Laurie E. Seltzer, Elizabeth A. Thiele, Farhad Sahebkar
Published in Epilepsia Open (2024-10-01)Get full text
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Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study. by David N Franz, Elena Belousova, Steven Sparagana, E Martina Bebin, Michael D Frost, Rachel Kuperman, Olaf Witt, Michael H Kohrman, J Robert Flamini, Joyce Y Wu, Paolo Curatolo, Petrus J de Vries, Noah Berkowitz, Julie Niolat, Sergiusz Jóźwiak
Published in PLoS ONE (2016-01-01)Get full text
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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. by Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Eric Glasgow, Alisdair McNeill
Published in PLoS Genetics (2017-08-01)Get full text
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Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study by Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Rajna Filip-Dhima, Kush Kapur, Clemente Velasco-Annis, Sean Clancy, Erin Carmody, Meghan Dean, Molly Valle, Sanjay P. Prabhu, Jurriaan M. Peters, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Mustafa Sahin, Simon K. Warfield
Published in Frontiers in Integrative Neuroscience (2019-07-01)Get full text
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Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results by Jamie K. Capal, David M. Ritter, David Neal Franz, Molly Griffith, Kristn Currans, Bridget Kent, E. Martina Bebin, Hope Northrup, Mary Kay Koenig, Tomoyuki Mizuno, Alexander A. Vinks, Stephanie L. Galandi, Wujuan Zhang, Kenneth D.R. Setchell, Kelly M. Kremer, Carlos M. Prada, Hansel M. Greiner, Katherine Holland‐Bouley, Paul S. Horn, Darcy A. Krueger
Published in Annals of the Child Neurology Society (2024-06-01)Get full text
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P205: Investigating sex differences in the behavioral phenotypes of Phelan-McDermid syndrome, tuberous sclerosis complex, and PTEN hamartoma tumor syndrome by Kate Friedman, Tess Levy, Paige Siper, Martina Bebin, Elizabeth Berry-Kravis, Jonathan Bernstein, Robyn Busch, Patricia Klaas, Kristn Currans, Amanda Gulsrud, Ellen Hanson, Antonio Hardan, Darcy Krueger, Julian Martinez-Agosto, Hope Northrup, Sarah O'Kelley, Deborah Pearson, Jennifer Phillips, Brenda Porter, Rajsekar Rajaraman, Mustafa Sahin, Joseph Buxbaum, Latha Valluripalli Soorya, Audrey Thurm, Alexander Kolevzon
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Genomic diagnosis for children with intellectual disability and/or developmental delay by Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
Published in Genome Medicine (2017-05-01)Get full text
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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors by Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Published in Nature Communications (2024-09-01)Get full text
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