Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

by Laura K. Case, Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin Tubbs, Micaela McCall, Megan L. Bradson, Marcin Szczot, Mark H. Pitcher, Nima Ghitani, Eleni Frangos, Jonathan Cole, Diana Bharucha-Goebel, Dimah Saade, Tracy Ogata, Sandra Donkervoort, A. Reghan Foley, Carsten G. Bönnemann, Håkan Olausson, M. Catherine Bushnell, Alexander T. Chesler
Published 2021

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

by María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Published 2019

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

by Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Published 2021