Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy

por Fraysse, Bodvaël, Guicheney, Pascale, Bitoun, Marc
Publicado 2016

The role of the M-band myomesin proteins in muscle integrity and cardiac disease

por Lamber, Ekaterina P., Guicheney, Pascale, Pinotsis, Nikos
Publicado 2022

Inter-Regulation of K(v)4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies

por Clatot, Jérôme, Neyroud, Nathalie, Cox, Robert, Souil, Charlotte, Huang, Jing, Guicheney, Pascale, Antzelevitch, Charles
Publicado 2020

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant

por Doisne, Nicolas, Grauso, Marta, Mougenot, Nathalie, Clergue, Michel, Souil, Charlotte, Coulombe, Alain, Guicheney, Pascale, Neyroud, Nathalie
Publicado 2021

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

por Castets, Perrine, Maugenre, Svetlana, Gartioux, Corine, Rederstorff, Mathieu, Krol, Alain, Lescure, Alain, Tajbakhsh, Shahragim, Allamand, Valérie, Guicheney, Pascale
Publicado 2009

A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes

por Touat-Hamici, Zahia, Blancard, Malorie, Ma, Ruifang, Lin, Lianyun, Iddir, Yasmine, Denjoy, Isabelle, Leenhardt, Antoine, Yuchi, Zhiguang, Guicheney, Pascale
Publicado 2021

Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findings

por Duthoit, Guillaume, Fressart, Véronique, Hidden-Lucet, Françoise, Simon, Françoise, Kattygnarath, Darouna, Charron, Philippe, Himbert, Caroline, Aouate, Philip, Guicheney, Pascale, Lecarpentier, Yves, Frank, Robert, Hébert, Jean-Louis
Publicado 2012

Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

por Rederstorff, Mathieu, Castets, Perrine, Arbogast, Sandrine, Lainé, Jeanne, Vassilopoulos, Stéphane, Beuvin, Maud, Dubourg, Odile, Vignaud, Alban, Ferry, Arnaud, Krol, Alain, Allamand, Valérie, Guicheney, Pascale, Ferreiro, Ana, Lescure, Alain
Publicado 2011

Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin

por Ali, Tayyibah, Bednarska, Joanna, Vassilopoulos, Stéphane, Tran, Martin, Diakonov, Ivan A., Ziyadeh-Isleem, Azza, Guicheney, Pascale, Gorelik, Julia, Korchev, Yuri E., Reilly, Mary M., Bitoun, Marc, Shevchuk, Andrew
Publicado 2019

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

por Trochet, Delphine, Prudhon, Bernard, Beuvin, Maud, Peccate, Cécile, Lorain, Stéphanie, Julien, Laura, Benkhelifa‐Ziyyat, Sofia, Rabai, Aymen, Mamchaoui, Kamel, Ferry, Arnaud, Laporte, Jocelyn, Guicheney, Pascale, Vassilopoulos, Stéphane, Bitoun, Marc
Publicado 2017

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation

por Blancard, Malorie, Debbiche, Amal, Kato, Koichi, Cardin, Christelle, Sabrina, Guichard, Gandjbakhch, Estelle, Probst, Vincent, Haissaguerre, Michel, Extramiana, Fabrice, Hocini, Mélèze, Olivier, Geoffroy, Leenhardt, Antoine, Guicheney, Pascale, Rougier, Jean-Sébastien
Publicado 2018

An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy

por Shevchuk, Andrew I., Novak, Pavel, Taylor, Marcus, Diakonov, Ivan A., Ziyadeh-Isleem, Azza, Bitoun, Marc, Guicheney, Pascale, Lab, Max J., Gorelik, Julia, Merrifield, Christien J., Klenerman, David, Korchev, Yuri E.
Publicado 2012

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

por Franck, Agathe, Lainé, Jeanne, Moulay, Gilles, Lemerle, Eline, Trichet, Michaël, Gentil, Christel, Benkhelifa-Ziyyat, Sofia, Lacène, Emmanuelle, Bui, Mai Thao, Brochier, Guy, Guicheney, Pascale, Romero, Norma, Bitoun, Marc, Vassilopoulos, Stéphane
Publicado 2019

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

por Blancard, Malorie, Touat-Hamici, Zahia, Aguilar-Sanchez, Yuriana, Yin, Liheng, Vaksmann, Guy, Roux-Buisson, Nathalie, Fressart, Véronique, Denjoy, Isabelle, Klug, Didier, Neyroud, Nathalie, Ramos-Franco, Josefina, Gomez, Ana Maria, Guicheney, Pascale
Publicado 2021

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells

por González-Jamett, Arlek M., Baez-Matus, Ximena, Olivares, María José, Hinostroza, Fernando, Guerra-Fernández, Maria José, Vasquez-Navarrete, Jacqueline, Bui, Mai Thao, Guicheney, Pascale, Romero, Norma Beatriz, Bevilacqua, Jorge A., Bitoun, Marc, Caviedes, Pablo, Cárdenas, Ana M.
Publicado 2017

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

por Roux-Buisson, Nathalie, Cacheux, Marine, Fourest-Lieuvin, Anne, Fauconnier, Jeremy, Brocard, Julie, Denjoy, Isabelle, Durand, Philippe, Guicheney, Pascale, Kyndt, Florence, Leenhardt, Antoine, Le Marec, Hervé, Lucet, Vincent, Mabo, Philippe, Probst, Vincent, Monnier, Nicole, Ray, Pierre F., Santoni, Elodie, Trémeaux, Pauline, Lacampagne, Alain, Fauré, Julien, Lunardi, Joël, Marty, Isabelle
Publicado 2012

Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes

por Behr, Elijah R., Ritchie, Marylyn D., Tanaka, Toshihiro, Kääb, Stefan, Crawford, Dana C., Nicoletti, Paola, Floratos, Aris, Sinner, Moritz F., Kannankeril, Prince J., Wilde, Arthur A. M., Bezzina, Connie R., Schulze-Bahr, Eric, Zumhagen, Sven, Guicheney, Pascale, Bishopric, Nanette H., Marshall, Vanessa, Shakir, Saad, Dalageorgou, Chrysoula, Bevan, Steve, Jamshidi, Yalda, Bastiaenen, Rachel, Myerburg, Robert J., Schott, Jean-Jacques, Camm, A. John, Steinbeck, Gerhard, Norris, Kris, Altman, Russ B., Tatonetti, Nicholas P., Jeffery, Steve, Kubo, Michiaki, Nakamura, Yusuke, Shen, Yufeng, George, Alfred L., Roden, Dan M.
Publicado 2013

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

por Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W.T., Bezzina, Connie R.
Publicado 2020

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

por Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.
Publicado 2020