Familial deep cavitating state with a glutathione metabolism defect by John Rendu, Laetitia Van Noolen, Catherine Garrel, Julie Brocard, Isabelle Marty, Christelle Corne, Julien Fauré, Gérard Besson

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

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

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Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men by Leyla Ounis, Abdelali Zoghmar, Charles Coutton, Leila Rouabah, Maroua Hachemi, Delphine Martinez, Guillaume Martinez, Ines Bellil, Douadi Khelifi, Christophe Arnoult, Julien Fauré, Sebti Benbouhedja, Abdelkader Rouabah, Pierre F Ray

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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome by Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Lucile Pinson, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré

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Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction by Muriel Sébastien, Benoit Giannesini, Perrine Aubin, Julie Brocard, Mathilde Chivet, Laura Pietrangelo, Simona Boncompagni, Christophe Bosc, Jacques Brocard, John Rendu, Sylvie Gory-Fauré, Annie Andrieux, Anne Fourest-Lieuvin, Julien Fauré, Isabelle Marty

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Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant by Ivana Dabaj, Ivana Dabaj, Ivana Dabaj, Robert Y. Carlier, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Susana Quijano-Roy, Dominique P. Germain, Dominique P. Germain

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In vivo RyR1 reduction in muscle triggers a core-like myopathy by Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty

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‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies by Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero

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

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies by Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero

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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course by Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm

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

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