Gene therapies for RyR1-related myopathies von Marty, Isabelle, Beaufils, Mathilde, Fauré, Julien, Rendu, John

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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human von Coutton, Charles, Vargas, Alexandra S., Amiri-Yekta, Amir, Kherraf, Zine-Eddine, Ben Mustapha, Selima Fourati, Le Tanno, Pauline, Wambergue-Legrand, Clémentine, Karaouzène, Thomas, Martinez, Guillaume, Crouzy, Serge, Daneshipour, Abbas, Hosseini, Seyedeh Hanieh, Mitchell, Valérie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Deleuze, Jean-François, Boland, Anne, Hennebicq, Sylviane, Satre, Véronique, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Conne, Beatrice, Dacheux, Denis, Landrein, Nicolas, Schmitt, Alain, Stouvenel, Laurence, Lorès, Patrick, El Khouri, Elma, Bottari, Serge P., Fauré, Julien, Wolf, Jean-Philippe, Pernet-Gallay, Karin, Escoffier, Jessica, Gourabi, Hamid, Robinson, Derrick R., Nef, Serge, Dulioust, Emmanuel, Zouari, Raoudha, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.

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Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency von Bally, Stéphane, Debiec, Hanna, Ponard, Denise, Dijoud, Frédérique, Rendu, John, Fauré, Julien, Ronco, Pierre, Dumestre-Perard, Chantal

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Rocket dust storms and detached dust layers in the Martian atmosphere von Spiga, Aymeric, Faure, Julien, Madeleine, Jean-Baptiste, Määttänen, Anni, Forget, François

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Thermodynamics of the dead-zone inner edge in protoplanetary disks von Faure, Julien, Fromang, Sébastien, Latter, Henrik

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Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains von Sébastien, Muriel, Aubin, Perrine, Brocard, Jacques, Brocard, Julie, Marty, Isabelle, Fauré, Julien

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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human von ROUX-BUISSON, Nathalie, CACHEUX, Marine, LE MAREC, Herve, LUCET, Vincent, MABO, Philippe, PROBST, Vincent, MONNIER, Nicole, RAY, Pierre F, SANTONI, Elodie, TREMEAUX, Pauline, LACAMPAGNE, Alain, FAURE, Julien, FOUREST-LIEUVIN, Anne, LUNARDI, Joël, MARTY, Isabelle, FAUCONNIER, Jeremy, BROCARD, Julie, DENJOY, Isabelle, DURAND, Philippe, GUICHENEY, Pascale, KYNDT, Florence, LEENHARDT, Antoine

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The Explosion Mechanism of Core-Collapse Supernovae: Progress in Supernova Theory and Experiments von Foglizzo, Thierry, Kazeroni, Rémi, Guilet, Jérôme, Masset, Frédéric, González, Matthias, Krueger, Brendan K., Novak, Jérôme, Oertel, Micaela, Margueron, Jérôme, Faure, Julien, Martin, Noël, Blottiau, Patrick, Peres, Bruno, Durand, Gilles

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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse von Cacheux, Marine, Fauconnier, Jérémy, Thireau, Jérôme, Osseni, Alexis, Brocard, Jacques, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle

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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes von Kherraf, Zine-Eddine, Christou-Kent, Marie, Karaouzene, Thomas, Amiri-Yekta, Amir, Martinez, Guillaume, Vargas, Alexandra S., Lambert, Emeline, Borel, Christelle, Dorphin, Beatrice, Aknin-Seifer, Isabelle, Mitchell, Michael J., Metzler-Guillemain, Catherine, Escoffier, Jessica, Nef, Serge, Grepillat, Mariane, Thierry-Mieg, Nicolas, Satre, Veronique, Bailly, Marc, Boitrelle, Florence, Pernet-Gallay, Karin, Hennebicq, Sylviane, Fauré, Julien, Bottari, Serge P., Coutton, Charles, Ray, Pierre F., Arnoult, Christophe

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations von BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan

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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores von Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xavière, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Véronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Töpf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Böhm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Fauré, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Bönnemann, Carsten G.

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A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect von Masingue, Marion, Fauré, Julien, Solé, Guilhem, Stojkovic, Tanya, Léonard-Louis, Sarah

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ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer von McLeer-Florin, Anne, Duruisseaux, Michael, Pinsolle, Julian, Dubourd, Sylvian, Mondet, Julie, Phillips Houlbracq, Mathilde, Magnat, Nelly, Fauré, Julien, Chatagnon, Amandine, de Fraipont, Florence, Giaj Levra, Matteo, Toffart, Anne-Claire, Ferretti, Gilbert, Hainaut, Pierre, Brambilla, Elisabeth, Moro-Sibilot, Denis, Lantuejoul, Sylvie

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Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells von Osseni, Alexis, Sébastien, Muriel, Sarrault, Oriana, Baudet, Mathieu, Couté, Yohann, Fauré, Julien, Fourest-Lieuvin, Anne, Marty, Isabelle

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Endosome-to-cytosol transport of viral nucleocapsids von Gruenberg, J, 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

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Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract von Rouxel, Flavien, Fauré, Julien, Faure, Jean-Michel, Deschamps, Françoise, Burlet, Gilles, Flandrin, Anaig, Couture, Alain, Prodhomme, Olivier, Rendu, John, Willems, Marjolaine

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Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation von Beaufils, Mathilde, Melka, Margaux, Brocard, Julie, Benoit, Clement, Debbah, Nagi, Mamchaoui, Kamel, Romero, Norma B., Dalmas-Laurent, Anne Frédérique, Quijano-Roy, Susana, Fauré, Julien, Rendu, John, Marty, Isabelle

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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 von 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

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Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene von Marguet, Florent, Rendu, John, Vanhulle, Catherine, Bedat-Millet, Anne-Laure, Brehin, Anne Claire, Fauré, Julien, Laquerrière, Annie

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