Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
Papadopoulos, Constantinos, Malfatti, Edoardo, Métay, Corinne, Keren, Boris, Lejeune, Elodie, Buratti, Julien, Xirou, Sophia, Chrysanthou-Piterou, Margarita, Papadimas, George K
Published in International journal of molecular sciences (01.07.2023)
Published in International journal of molecular sciences (01.07.2023)
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Defining the landscape of TIA1 and SQSTM1 digenic myopathy
Panos-Basterra, Paula, Theuriet, Julian, Nadaj-Pakleza, Aleksandra, Magot, Armelle, Lannes, Beatrice, Marcorelles, Pascale, Behin, Anthony, Masingue, Marion, Caillon, Florence, Malek, Yannis, Fenouil, Tanguy, Bas, Joaquim, Menassa, Rita, Michel-Calemard, Laurence, Streichenberger, Nathalie, Simon, Jean-Philippe, Bouhour, Francoise, Evangelista, Teresinha, Métay, Corinne, Pegat, Antoine, Stojkovic, Tanya, Fernández-Eulate, Gorka
Published in Neuromuscular disorders : NMD (01.09.2024)
Published in Neuromuscular disorders : NMD (01.09.2024)
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Titin copy number variations associated with dominant inherited phenotypes
Perrin, Aurélien, Métay, Corinne, Savarese, Marco, Ben Yaou, Rabah, Demidov, German, Nelson, Isabelle, Solé, Guilhem, Péréon, Yann, Bertini, Enrico Silvio, Fattori, Fabiana, D'Amico, Adele, Ricci, Federica, Ginsberg, Mira, Seferian, Andreea, Boespflug-Tanguy, Odile, Servais, Laurent, Chapon, Françoise, Lagrange, Emmeline, Gaudon, Karen, Bloch, Adrien, Ghanem, Robin, Guyant-Maréchal, Lucie, Johari, Mridul, Van Goethem, Charles, Fardeau, Michel, Morales, Raul Juntas, Genetti, Casie A, Marttila, Minttu, Koenig, Michel, Beggs, Alan, Udd, Bjarne, Bonne, Gisèle, Cossée, Mireille
Published in Journal of medical genetics (21.03.2024)
Published in Journal of medical genetics (21.03.2024)
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Vecten, Maude, Pion, Emmanuelle, Bartoli, Marc, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tanya, Bourdain, Cécile Acquaviva, Métay, Corinne, Richard, Isabelle, Cerino, Mathieu, Milh, Mathieu, Campana-Salort, Emmanuelle, Gorokhova, Svetlana, Levy, Nicolas, Latypova, Xénia, Bonne, Gisèle, Biancalana, Valérie, Petit, François, Molon, Annamaria, Perrin, Aurélien, Laforêt, Pascal, Attarian, Shahram, Krahn, Martin, Cossée, Mireille
Published in International journal of molecular sciences (01.08.2022)
Published in International journal of molecular sciences (01.08.2022)
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Journal Article
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
Perrin, Aurélien, Van Goethem, Charles, Thèze, Corinne, Puechberty, Jacques, Guignard, Thomas, Lecardonnel, Bérénice, Lacourt, Delphine, Métay, Corinne, Isapof, Arnaud, Whalen, Sandra, Ferreiro, Ana, Arne-Bes, Marie-Christine, Quijano-Roy, Susana, Nectoux, Juliette, Leturcq, France, Richard, Pascale, Larrieux, Marion, Bergougnoux, Anne, Pellestor, Franck, Koenig, Michel, Cossée, Mireille
Published in The Journal of molecular diagnostics : JMD (01.07.2022)
Published in The Journal of molecular diagnostics : JMD (01.07.2022)
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A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
Foy, Malika, Métay, Corinne, Frank, Michael, Denarié, Nicolas, Adham, Salma, Billon, Clarisse, Legrand, Anne, Jeunemaitre, Xavier, Gillas, Fabrice, Gaudon, Karen, De Mazancourt, Philippe, Mekki, Ahmed, Carlier, Robert, Benistan, Karelle
Published in Clinical case reports (01.02.2023)
Published in Clinical case reports (01.02.2023)
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A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder
Foy, Malika, De Mazancourt, Philippe, Métay, Corinne, Carlier, Robert, Allamand, Valérie, Gartioux, Corine, Gillas, Fabrice, Miri, Nawel, Jobic, Valérie, Mekki, Ahmed, Richard, Pascale, Michot, Caroline, Benistan, Karelle
Published in Clinical case reports (01.09.2021)
Published in Clinical case reports (01.09.2021)
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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne
Published in Molecular genetics & genomic medicine (01.11.2021)
Published in Molecular genetics & genomic medicine (01.11.2021)
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Novel dominant distal titinopathy phenotype associated with copy number variation
Perrin, Aurélien, Juntas Morales, Raul, Chapon, Françoise, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Uro‐Coste, Emmanuelle, Giovannini, Diane, Leboucq, Nicolas, Mallaret, Martial, Lagrange, Emmeline, Rigau, Valérie, Gaudon, Karen, Richard, Pascale, Koenig, Michel, Métay, Corinne, Cossée, Mireille
Published in Annals of clinical and translational neurology (01.09.2021)
Published in Annals of clinical and translational neurology (01.09.2021)
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LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
Stojkovic, Tanya, Masingue, Marion, Métay, Corinne, Romero, Norma B, Eymard, Bruno, Ben Yaou, Rabah, Rialland, Laetitia, Drunat, Séverine, Gartioux, Corine, Nelson, Isabelle, Allamand, Valérie, Bonne, Gisèle, Villar-Quiles, Rocio Nur
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
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Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
Brisset, Sophie, Capri, Yline, Briand-Suleau, Audrey, Tosca, Lucie, Gras, Domitille, Fauret-Amsellem, Anne-Laure, Pineau, Dominique, Saada, Julien, Ortonne, Valérie, Verloes, Alain, Goossens, Michel, Tachdjian, Gérard, Métay, Corinne
Published in European journal of medical genetics (01.09.2015)
Published in European journal of medical genetics (01.09.2015)
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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
Tachdjian, Gérard, Brisset, Sophie, Drévillon, Loïc, Métay, Corinne, Saada, Julien, Martinovic, Jelena, Tosca, Lucie, Naud, Marie-Emmanuelle, Benoit, Virginie
Published in Case reports in genetics (01.01.2017)
Published in Case reports in genetics (01.01.2017)
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New CCR5 variants associated with reduced HIV coreceptor function in southeast Asia
CAPOULADE-METAY, Corinne, LIYING MA, BISMUTH, Georges, PANCINO, Gianfranco, THEODOROU, Ioannis, TRUONG, Lien X, DUDOIT, Yasmine, VERSMISSE, Pierre, NGUYEN, Ngai V, NGUYEN, Marie, SCOTT-ALGARA, Daniel, BARRE-SINOUSSI, Francoise, DEBRE, Patrice
Published in AIDS (London) (19.11.2004)
Published in AIDS (London) (19.11.2004)
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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, Carlier, Robert Y.
Published in Journal of neurology (01.05.2022)
Published in Journal of neurology (01.05.2022)
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A natural CCL5/RANTES variant antagonist for CCR1 and CCR3
Capoulade-Métay, Corinne, Ayouba, Ahidjo, Kfutwah, Anfumbom, Lole, Kavita, Pêtres, Stéphane, Dudoit, Yasmine, Deterre, Philippe, Menu, Elisabeth, Barré-Sinoussi, Françoise, Debré, Patrice, Theodorou, Ioannis
Published in Immunogenetics (New York) (01.07.2006)
Published in Immunogenetics (New York) (01.07.2006)
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Biochemical and HIV-1 coreceptor properties of K26R, a new CCR5 Variant in China's Sichuan population
Ma, Liying, Dudoit, Yasmine, Tran, Ton, Xing, Hui, Chen, Jianping, Pancino, Gianfranco, Bismuth, Georges, Debré, Patrice, Shao, Yiming, Theodorou, Ioannis, Capoulade-Métay, Corinne
Published in Journal of acquired immune deficiency syndromes (1999) (01.05.2005)
Published in Journal of acquired immune deficiency syndromes (1999) (01.05.2005)
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Influence of the R22H variant of macrophage inflammatory protein 1β/Lag-1 in HIV-1 survival
CAPOULADE-METAY, Corinne, MEYER, Laurence, TRAN, Ton, PERSOZ, Anne, BOURDAIS, Anne, DUDOIT, Yasmine, DELFRAISSY, Jean-Francois, DEBRE, Patrice, THEODOROU, Ioannis
Published in AIDS (London) (20.05.2005)
Published in AIDS (London) (20.05.2005)
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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J, Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B, Relaix, Frederic, Authier, François Jérôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo
Published in Acta neuropathologica communications (21.03.2023)
Published in Acta neuropathologica communications (21.03.2023)
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