Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1

od Swan, Laura E., Tomasini, Livia, Pirruccello, Michelle, Lunardi, Joël, De Camilli, Pietro
Wydane 2010

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis

od Ben Khelifa, Mariem, Zouari, Raoudha, Harbuz, Radu, Halouani, Lazhar, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Wydane 2011

Triadins are not triad-specific proteins: two new skeletal muscle triadins possibly involved in the architecture of sarcoplasmic reticulum

od Vassilopoulos, Stéphane, Thevenon, Dominique, Rezgui, Sophia Smida, Brocard, Julie, Chapel, Agnès, Lacampagne, Alain, Lunardi, Joël, De Waard, Michel, Marty, Isabelle
Wydane 2005

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

od Ochala, Julien, Gokhin, David S., Pénisson-Besnier, Isabelle, Quijano-Roy, Susana, Monnier, Nicole, Lunardi, Joël, Romero, Norma B., Fowler, Velia M.
Wydane 2012

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

od Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F.
Wydane 2013

Triadin Deletion Induces Impaired Skeletal Muscle Function

od 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
Wydane 2009

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

od Procaccio, Vincent, Mousson, Bénédicte, Beugnot, Réjane, Duborjal, Hervé, Feillet, François, Putet, Guy, Pignot-Paintrand, Isabelle, Lombès, Anne, Coo, René De, Smeets, Hubert, Lunardi, Joël, Issartel, Jean-Paul
Wydane 1999

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

od Dowling, James J., Arbogast, Sandrine, Hur, Junguk, Nelson, Darcee D., McEvoy, Anna, Waugh, Trent, Marty, Isabelle, Lunardi, Joel, Brooks, Susan V., Kuwada, John Y., Ferreiro, Ana
Wydane 2012

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

od 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
Wydane w J Neuromuscul Dis (2015)

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

od 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
Wydane 2013

Mapping of a Further Malignant Hyperthermia Susceptibility Locus to Chromosome 3q13.1

od Sudbrak, Ralf, Procaccio, Vincent, Klausnitzer, Monica, Curran, Julie L., Monsieurs, Koen, Van Broeckhoven, Christine, Ellis, Richard, Heyetens, Luc, Hartung, Edmund J., Kozak-Ribbens, Geneviéve, Heilinger, Dorit, Weissenbach, Jean, Lehman-Horn, Frank, Mueller, Clemens R., Deufel, Thomas, Stewart, Alistair D., Lunardi, Joël
Wydane 1995

An Integrated Diagnosis Strategy for Congenital Myopathies

od Böhm, Johann, Vasli, Nasim, Malfatti, Edoardo, Le Gras, Stéphanie, Feger, Claire, Jost, Bernard, Monnier, Nicole, Brocard, Julie, Karasoy, Hatice, Gérard, Marion, Walter, Maggie C., Reilich, Peter, Biancalana, Valérie, Kretz, Christine, Messaddeq, Nadia, Marty, Isabelle, Lunardi, Joël, Romero, Norma B., Laporte, Jocelyn
Wydane 2013

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

od 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
Wydane w Genet Med (2018)

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

od 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
Wydane 2012

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

od Harbuz, Radu, Zouari, Raoudha, Pierre, Virginie, Ben Khelifa, Mariem, Kharouf, Mahmoud, Coutton, Charles, Merdassi, Ghaya, Abada, Farid, Escoffier, Jessica, Nikas, Yorgos, Vialard, François, Koscinski, Isabelle, Triki, Chema, Sermondade, Nathalie, Schweitzer, Thérèse, Zhioua, Amel, Zhioua, Fethi, Latrous, Habib, Halouani, Lazhar, Ouafi, Marrakchi, Makni, Mounir, Jouk, Pierre-Simon, Sèle, Bernard, Hennebicq, Sylviane, Satre, Véronique, Viville, Stéphane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Wydane 2011