Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

por Kediha, Mohamed Islam, Tazir, Meriem, Sternberg, Damien, Eymard, Bruno, Alipacha, Lamia
Publicado 2022

Prevalence and correlates of apathy in myotonic dystrophy type 1

por Gallais, Benjamin, Montreuil, Michèle, Gargiulo, Marcela, Eymard, Bruno, Gagnon, Cynthia, Laberge, Luc
Publicado 2015

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

por Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke
Publicado 2017

Marathons and myasthenia gravis: a case report

por Birnbaum, Simone, Sharshar, Tarek, Eymard, Bruno, Theaudin, Marie, Portero, Pierre, Hogrel, Jean-Yves
Publicado 2018

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

por Richard, Pascale, Trollet, Capucine, Stojkovic, Tanya, de Becdelievre, Alix, Perie, Sophie, Pouget, Jean, Eymard, Bruno
Publicado 2017

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

por Thompson, Rachel, Abicht, Angela, Beeson, David, Engel, Andrew G., Eymard, Bruno, Maxime, Emmanuel, Lochmüller, Hanns
Publicado 2018

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1

por Hogrel, Jean‐Yves, Ollivier, Gwenn, Ledoux, Isabelle, Hébert, Luc J., Eymard, Bruno, Puymirat, Jack, Bassez, Guillaume
Publicado 2017

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report

por Fayssoil, Abdallah, Stojkovic, Tanya, Ogna, Adam, Laforet, Pascal, Prigent, Helene, Lofaso, Frederic, Orlikowski, David, Bassez, Guillaume, Eymard, Bruno, Behin, Anthony
Publicado 2019

Comparative Analysis of Thymic and Blood Treg in Myasthenia Gravis: Thymic Epithelial Cells Contribute to Thymic Immunoregulatory Defects

por Truffault, Frédérique, Nazzal, Dani, Verdier, Julien, Gradolatto, Angeline, Fadel, Elie, Roussin, Régine, Eymard, Bruno, Le Panse, Rozen, Berrih-Aknin, Sonia
Publicado 2020

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

por De Antonio, Marie, Dogan, Céline, Daidj, Ferroudja, Eymard, Bruno, Puymirat, Jack, Mathieu, Jean, Gagnon, Cynthia, Katsahian, Sandrine, Hamroun, Dalil, Bassez, Guillaume
Publicado 2019

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

por Barbeau, Susie, Semprez, Fannie, Dobbertin, Alexandre, Merriadec, Laurine, Roussange, Florine, Eymard, Bruno, Sternberg, Damien, Fournier, Emmanuel, Karasoy, Hanice, Martinat, Cécile, Legay, Claire
Publicado 2023

Natural history of LGMD2A for delineating outcome measures in clinical trials

por Richard, Isabelle, Hogrel, Jean‐Yves, Stockholm, Daniel, Payan, Christine A. M., Fougerousse, Françoise, Eymard, Bruno, Mignard, Claude, Lopez de Munain, Adolfo, Fardeau, Michel, Urtizberea, Jon Andoni
Publicado 2016

Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis

por Wanschitz, Julia V., Dubourg, Odile, Lacene, Emmanuelle, Fischer, Michael B., Höftberger, Romana, Budka, Herbert, Romero, Norma B., Eymard, Bruno, Herson, Serge, Butler-Browne, Gillian S., Voit, Thomas, Benveniste, Olivier
Publicado 2013

IL-6 and Akt are involved in muscular pathogenesis in myasthenia gravis

por Maurer, Marie, Bougoin, Sylvain, Feferman, Tali, Frenkian, Mélinée, Bismuth, Jacky, Mouly, Vincent, Clairac, Geraldine, Tzartos, Socrates, Fadel, Elie, Eymard, Bruno, Fuchs, Sara, Souroujon, Miriam C, Berrih-Aknin, Sonia
Publicado 2015

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

por Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
Publicado 2015

The benefits and tolerance of exercise in myasthenia gravis (MGEX): study protocol for a randomised controlled trial

por Birnbaum, Simone, Hogrel, Jean-Yves, Porcher, Raphael, Portero, Pierre, Clair, Bernard, Eymard, Bruno, Demeret, Sophie, Bassez, Guillaume, Gargiulo, Marcela, Louët, Estelle, Berrih-Aknin, Sonia, Jobic, Asmaa, Aegerter, Philippe, Thoumie, Philippe, Sharshar, Tarek
Publicado 2018

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

por Fayssoil, Abdallah, Behin, Anthony, Ogna, Adam, Mompoint, Dominique, Amthor, Helge, Clair, Bernard, Laforet, Pascal, Mansart, Arnaud, Prigent, Helene, Orlikowski, David, Stojkovic, Tanya, Vinit, Stéphane, Carlier, Robert, Eymard, Bruno, Lofaso, Frederic, Annane, Djillali
Publicado 2018

Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders

por Fayssoil, Abdallah, Nguyen, Lee S., Ogna, Adam, Stojkovic, Tanya, Meng, Paris, Mompoint, Dominique, Carlier, Robert, Prigent, Helene, Clair, Bernard, Behin, Anthony, Laforet, Pascal, Bassez, Guillaume, Crenn, Pascal, Orlikowski, David, Annane, Djillali, Eymard, Bruno, Lofaso, Frederic
Publicado 2019

Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1

por Morin, Alexandre, Funkiewiez, Aurelie, Routier, Alexandre, Le Bouc, Raphael, Borderies, Nicolas, Galanaud, Damien, Levy, Richard, Pessiglione, Mathias, Dubois, Bruno, Eymard, Bruno, Michon, Claire-Cecile, Angeard, Nathalie, Behin, Anthony, Laforet, Pascal, Stojkovic, Tanya, Azuar, Carole
Publicado 2022

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

por Masingue, Marion, Cattaneo, Olivia, Wolff, Nicolas, Buon, Céline, Sternberg, Damien, Euchparmakian, Morgane, Boex, Myriam, Behin, Anthony, Mamchaouhi, Kamel, Maisonobe, Thierry, Nougues, Marie-Christine, Isapof, Arnaud, Fontaine, Bertrand, Messéant, Julien, Eymard, Bruno, Strochlic, Laure, Bauché, Stéphanie
Publicado 2023