Excitation-Contraction Coupling Alterations in Myopathies

gan Marty, Isabelle, Fauré, Julien
Cyhoeddwyd yn J Neuromuscul Dis (2016)

Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains

gan Sébastien, Muriel, Aubin, Perrine, Brocard, Jacques, Brocard, Julie, Marty, Isabelle, Fauré, Julien
Cyhoeddwyd yn Mol Biol Cell (2020)

Triadin: what possible function 20 years later?

gan Marty, Isabelle, Fauré, Julien, Fourest-Lieuvin, Anne, Vassilopoulos, Stéphane, Oddoux, Sarah, Brocard, Julie
Cyhoeddwyd 2009

Late endosome motility depends on lipids via the small GTPase Rab7

gan Lebrand, Cécile, Corti, Michela, Goodson, Holly, Cosson, Pierre, Cavalli, Valeria, Mayran, Nathalie, Fauré, Julien, Gruenberg, Jean
Cyhoeddwyd 2002

Caveolin 3 Is Associated with the Calcium Release Complex and Is Modified via in Vivo Triadin Modification†

gan Vassilopoulos, Stéphane, Oddoux, Sarah, Groh, Séverine, Cacheux, Marine, Fauré, Julien, Brocard, Julie, Campbell, Kevin P., Marty, Isabelle
Cyhoeddwyd 2010

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

gan Poussel, Mathias, Guerci, Philippe, Kaminsky, Pierre, Heymonet, Marie, Roux-Buisson, Nathalie, Faure, Julien, Fronzaroli, Emilien, Chenuel, Bruno
Cyhoeddwyd yn J Athl Train (2015)

Phospholipase A2 Receptor–Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

gan Bally, Stéphane, Debiec, Hanna, Ponard, Denise, Dijoud, Frédérique, Rendu, John, Fauré, Julien, Ronco, Pierre, Dumestre-Perard, Chantal
Cyhoeddwyd yn J Am Soc Nephrol (2016)

Familial deep cavitating state with a glutathione metabolism defect

gan Rendu, John, Van Noolen, Laetitia, Garrel, Catherine, Brocard, Julie, Marty, Isabelle, Corne, Christelle, Fauré, Julien, Besson, Gérard
Cyhoeddwyd yn Ann Clin Transl Neurol (2019)

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

gan Cacheux, Marine, Fauconnier, Jérémy, Thireau, Jérôme, Osseni, Alexis, Brocard, Jacques, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle
Cyhoeddwyd yn Mol Ther (2020)

Triadin Deletion Induces Impaired Skeletal Muscle Function

gan Oddoux, Sarah, Brocard, Julie, Schweitzer, Annie, Szentesi, Peter, Giannesini, Benoit, Brocard, Jacques, Fauré, Julien, Pernet-Gallay, Karine, Bendahan, David, Lunardi, Joël, Csernoch, Laszlo, Marty, Isabelle
Cyhoeddwyd 2009

Endosome-to-cytosol transport of viral nucleocapsids

gan Le Blanc, Isabelle, Luyet, Pierre-Philippe, Pons, Véronique, Ferguson, Charles, Emans, Neil, Petiot, Anne, Mayran, Nathalie, Demaurex, Nicolas, Fauré, Julien, Sadoul, Rémy, Parton, Robert G., Gruenberg, Jean
Cyhoeddwyd 2005

Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends

gan Peris, Leticia, Thery, Manuel, Fauré, Julien, Saoudi, Yasmina, Lafanechère, Laurence, Chilton, John K., Gordon-Weeks, Phillip, Galjart, Niels, Bornens, Michel, Wordeman, Linda, Wehland, Juergen, Andrieux, Annie, Job, Didier
Cyhoeddwyd 2006

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

gan Ounis, Leyla, Zoghmar, Abdelali, Coutton, Charles, Rouabah, Leila, Hachemi, Maroua, Martinez, Delphine, Martinez, Guillaume, Bellil, Ines, Khelifi, Douadi, Arnoult, Christophe, Fauré, Julien, Benbouhedja, Sebti, Rouabah, Abdelkader, Ray, Pierre F
Cyhoeddwyd yn Asian J Androl (2015)

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

gan Sébastien, Muriel, Giannesini, Benoit, Aubin, Perrine, Brocard, Julie, Chivet, Mathilde, Pietrangelo, Laura, Boncompagni, Simona, Bosc, Christophe, Brocard, Jacques, Rendu, John, Gory-Fauré, Sylvie, Andrieux, Annie, Fourest-Lieuvin, Anne, Fauré, Julien, Marty, Isabelle
Cyhoeddwyd yn Skelet Muscle (2018)

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

gan Cacheux, Marine, Blum, Ariane, Sébastien, Muriel, Wozny, Anne Sophie, Brocard, Julie, Mamchaoui, Kamel, Mouly, Vincent, Roux-Buisson, Nathalie, Rendu, John, Monnier, Nicole, Krivosic, Renée, Allen, Paul, Lacour, Arnaud, Lunardi, Joël, Fauré, Julien, Marty, Isabelle
Cyhoeddwyd yn J Neuromuscul Dis (2015)

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

gan Rendu, John, Brocard, Julie, Denarier, Eric, Monnier, Nicole, Piétri-Rouxel, France, Beley, Cyriaque, Roux-Buisson, Nathalie, Gilbert-Dussardier, Brigitte, Perez, Marie José, Romero, Norma, Garcia, Luis, Lunardi, Joël, Fauré, Julien, Fourest-Lieuvin, Anne, Marty, Isabelle
Cyhoeddwyd 2013

In vivo RyR1 reduction in muscle triggers a core-like myopathy

gan Pelletier, Laurent, Petiot, Anne, Brocard, Julie, Giannesini, Benoit, Giovannini, Diane, Sanchez, Colline, Travard, Lauriane, Chivet, Mathilde, Beaufils, Mathilde, Kutchukian, Candice, Bendahan, David, Metzger, Daniel, Franzini Armstrong, Clara, Romero, Norma B., Rendu, John, Jacquemond, Vincent, Fauré, Julien, Marty, Isabelle
Cyhoeddwyd yn Acta Neuropathol Commun (2020)

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

gan Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz
Cyhoeddwyd yn Acta Neuropathol Commun (2019)

TRPV1 variants impair intracellular Ca(2+) signaling and may confer susceptibility to malignant hyperthermia

gan Vanden Abeele, Fabien, Lotteau, Sabine, Ducreux, Sylvie, Dubois, Charlotte, Monnier, Nicole, Hanna, Amy, Gkika, Dimitra, Romestaing, Caroline, Noyer, Lucile, Flourakis, Matthieu, Tessier, Nolwenn, Al-Mawla, Ribal, Chouabe, Christophe, Lefai, Etienne, Lunardi, Joël, Hamilton, Susan, Fauré, Julien, Van Coppenolle, Fabien, Prevarskaya, Natalia
Cyhoeddwyd yn Genet Med (2018)

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

gan Bakri, Faris Ghalib, Mollin, Michelle, Beaumel, Sylvain, Vigne, Bénédicte, Roux-Buisson, Nathalie, Al-Wahadneh, Adel Mohammed, Alzyoud, Raed Mohammed, Hayajneh, Wail Ahmad, Daoud, Ammar Khaled, Shukair, Mohammed Elian Abu, Karadshe, Mansour Fuad, Sarhan, Mahmoud Mohammad, Al-Ramahi, Jamal Ahmad Wadi, Fauré, Julien, Rendu, John, Stasia, Marie Jose
Cyhoeddwyd yn Front Immunol (2021)