Contributors

Autor: Samira Abdulai-Saiku, Stanley H. Appel, Arthur P. Arnold, Lisa M. Arnold, Robert M. Arnold, Alexa Bacha, Miroslav 'Misha' Backonja, Zinzi D. Bailey, Lucinda Bateman, David R. Beers, Anna Berti, Mamta Bhatnagar, Devin K. Binder, Marina Boido, Maura Boldrini, David Borsook, Xandra O. Breakefield, Robert H. Brown, Rami Burstein, Eduardo R. Butelman, Louis R. Caplan, S. Chen, Marie-Françoise Chesselet, Stefan Clemens, Paula R. Clemens, Joseph T. Coyle, John C. DeWitt, Dena B. Dubal, Veljko Dubljević, Eva L. Feldman, Beth A. Fischer, M.C. Flux, J.S. Fortin, Angelisa Frasca, Francesca Garbarini, Thomas Gasser, Charles F. Gillespie, Michael S. Gold, Stefan M. Gold, Randi Hagerman, Regan Hamel, Craig Haney, James C. Harris, Sara Hassani, Norman J. Haughey, Vibol Heng, J. Horn, Rosana-Bristena Ionescu, Raffaele Iorio, David J. Irwin, Henry J. Kaminski, Dalia Khammash, Vikram Khurana, Charlotte Kilstrup-Nielsen, Bhumsoo Kim, Boram Kim, Marieke Klein, Nastassja Koen, Glenn T. Konopaske, Joanna A. Korecka, Birgitte Rahbek Kornum, Mary Jeanne Kreek, Krister Kristensson, Grzegorz Krzak, Linda L. Kusner, Nicoletta Landsberger, Edward B. Lee, Tong Li, Paweł P. Liberski, Christine Lochner, Christopher A. Lowry, J. John Mann, Clara Marincowitz, E.A. Mayer, E.D. Mayer, Iris Coates McCall, Louise D. McCullough, Michael J. Meaney, Claudio Melo de Gusmao, Abhishek L. Menesgere, Emmanuel Mignot, William C. Mobley, Mayra Montalvo, Alisha R. Moreland-Capuia, Marco Neppi-Modona, Alexandra M. Nicaise, Rae Nishi, Orna O'Toole, Cassia Overk, Laurie Ozelius, Matthew P. Parsons, H.B. Penticoff, Luca Peruzzotti-Jametti, Owen M. Peters, Allison Peterson, Jessica M. Phan, Sean J. Pittock, Stefano Pluchino, Thad A. Polk, Araya Puwanant, Shreya K. Rajagopal, Vijayalakshmi Ravindranath, Lynn A. Raymond, Brian Reed, Kerry J. Ressler, Diane L. Ritchie, Leah H. Rubin, Stacey A. Sakowski, Mario A. Saporta, Alena V. Savonenko, Helen E. Scharfman, Bruce K. Shapiro, Nutan Sharma, Cayce K. Shaw, Michael E. Shy, Beata Sikorska, Ethan J. Silverman, Roger P. Simon, Kristina Simonyan, Catrina Sims-Robinson, Richard Jay Smeyne, Clay Smith, Colin Smith, Sharan R. Srinivasan, Dan J. Stein, Christopher D. Stephen, Indu Subramanian, Edina Szabo, Alissa A. Thomas, Luis B. Tovar-y-Romo, Arshya Vahabzadeh, Alessandro Vercelli, Ashley Viera-Ortiz, Mitchell T. Wallin, Donna M. Werling, Thomas Wichmann, Clayton A. Wiley, David R. Williams, Cory Willis, Philip C. Wong, Vadim Yuferov, Weihua Zhao, Michael J. Zigmond, Saša A. Živković

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::243fdcc9a4e15e7cb9744b08ed648667
https://doi.org/10.1016/b978-0-323-85654-6.01002-9

Loss of function MPZ mutation causes milder CMT1B neuropathy

Autor: Raffaella Fazio, Paige Howard, Tiffany Grider, Michael E. Shy, Stefano C. Previtali, Marina Scarlato, Angelo Quattrini, Alexa Bacha, Shawna M. E. Feely

Publikováno v: Journal of the Peripheral Nervous System. 26:177-183

Mutations in Myelin Protein Zero (MPZ) cause CMT1B, the second leading cause of CMT1. Many of the >200 mutations cause neuropathy through a toxic gain of function by the mutant protein such as ER retention, activation of the Unfolded Protein Response

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3199fe31d0f75e0586bc46ca719158
https://doi.org/10.1111/jns.12452

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