Renal artery fibromuscular dysplasia in Pompe disease: A case report

por Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
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

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

Satellite cells attract monocytes and use macrophages as a support to escape apoptosis and enhance muscle growth

por Chazaud, Bénédicte, Sonnet, Corinne, Lafuste, Peggy, Bassez, Guillaume, Rimaniol, Anne-Cécile, Poron, Françoise, Authier, François-Jérôme, Dreyfus, Patrick A., Gherardi, Romain K.
Publicado 2003

Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy

por van As, Daniël, Okkersen, Kees, Bassez, Guillaume, Schoser, Benedikt, Lochmüller, Hanns, Glennon, Jeffrey C., Knoop, Hans, van Engelen, Baziel G.M., ’t Hoen, Peter A.C.
Publicado 2021

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

por Heskamp, Linda, van Nimwegen, Marlies, Ploegmakers, Marieke J., Bassez, Guillaume, Deux, Jean-Francois, Cumming, Sarah A., Monckton, Darren G., van Engelen, Baziel G.M., Heerschap, Arend
Publicado 2019

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy

por Aouizerate, Jessie, De Antonio, Marie, Bassez, Guillaume, Gherardi, Romain K, Berenbaum, Francis, Guillevin, Loïc, Berezne, Alice, Valeyre, Dominique, Maisonobe, Thierry, Dubourg, Odile, Cosnes, Anne, Benveniste, Olivier, Authier, François Jérôme
Publicado 2014

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

por Jauvin, Dominic, Chrétien, Jessina, Pandey, Sanjay K., Martineau, Laurie, Revillod, Lucille, Bassez, Guillaume, Lachon, Aline, McLeod, A. Robert, Gourdon, Geneviève, Wheeler, Thurman M., Thornton, Charles A., Bennett, C. Frank, Puymirat, Jack
Publicado 2017

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

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

por Cumming, Sarah A., Jimenez-Moreno, Cecilia, Okkersen, Kees, Wenninger, Stephan, Daidj, Ferroudja, Hogarth, Fiona, Littleford, Roberta, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Lochmüller, Hanns, van Engelen, Baziel G.M., Monckton, Darren G.
Publicado 2019

Consensus-based care recommendations for adults with myotonic dystrophy type 2

por Schoser, Benedikt, Montagnese, Federica, Bassez, Guillaume, Fossati, Barbara, Gamez, Josep, Heatwole, Chad, Hilbert, James, Kornblum, Cornelia, Kostera-Pruszczyk, Anne, Krahe, Ralf, Lusakowska, Anna, Meola, Giovanni, Moxley, Richard, Thornton, Charles, Udd, Bjarne, Formaker, Paul
Publicado 2019

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

por Wenninger, Stephan, Cumming, Sarah A., Gutschmidt, Kristina, Okkersen, Kees, Jimenez-Moreno, Aura Cecilia, Daidj, Ferroudja, Lochmüller, Hanns, Hogarth, Fiona, Knoop, Hans, Bassez, Guillaume, Monckton, Darren G., van Engelen, Baziel G.M., Schoser, Benedikt
Publicado 2021

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

Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy

por Stalens, Caroline, Motté, Leslie, Béhin, Anthony, Ben Yaou, Rabah, Leturcq, France, Bassez, Guillaume, Laforêt, Pascal, Fontaine, Bertrand, Ederhy, Stéphane, Masingue, Marion, Saadi, Malika, Louis, Sarah Leonard, Berber, Nawal, Stojkovic, Tanya, Duboc, Denis, Wahbi, Karim
Publicado 2021

Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus

por Huguet, Aline, Medja, Fadia, Nicole, Annie, Vignaud, Alban, Guiraud-Dogan, Céline, Ferry, Arnaud, Decostre, Valérie, Hogrel, Jean-Yves, Metzger, Friedrich, Hoeflich, Andreas, Baraibar, Martin, Gomes-Pereira, Mário, Puymirat, Jack, Bassez, Guillaume, Furling, Denis, Munnich, Arnold, Gourdon, Geneviève
Publicado 2012

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice

por Klein, Arnaud F., Varela, Miguel A., Arandel, Ludovic, Holland, Ashling, Naouar, Naira, Arzumanov, Andrey, Seoane, David, Revillod, Lucile, Bassez, Guillaume, Ferry, Arnaud, Jauvin, Dominic, Gourdon, Genevieve, Puymirat, Jack, Gait, Michael J., Furling, Denis, Wood, Matthew J.A.
Publicado 2019

Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG

por Dewilde, Sarah, Philips, Glenn, Paci, Sandra, Beauchamp, Jon, Chiroli, Silvia, Quinn, Casey, Day, Laura, Larkin, Mark, Palace, Jacqueline, Berrih-Aknin, Sonia, Claeys, Kristl G, Muppidi, Srikanth, Mantegazza, Renato, Saccà, Francesco, Meisel, Andreas, Bassez, Guillaume, Murai, Hiroyuki, Janssen, MF
Publicado 2023

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

por Laustriat, Delphine, Gide, Jacqueline, Barrault, Laetitia, Chautard, Emilie, Benoit, Clara, Auboeuf, Didier, Boland, Anne, Battail, Christophe, Artiguenave, François, Deleuze, Jean-François, Bénit, Paule, Rustin, Pierre, Franc, Sylvia, Charpentier, Guillaume, Furling, Denis, Bassez, Guillaume, Nissan, Xavier, Martinat, Cécile, Peschanski, Marc, Baghdoyan, Sandrine
Publicado 2015

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

por Fayssoil, Abdallah, Mansencal, Nicolas, Nguyen, Lee S., Nardi, Olivier, Yaou, Rabah Ben, Leturcq, France, Amthor, Helge, Wahbi, Karim, Becane, Henri Marc, Lofaso, Frederic, Prigent, Helene, Bassez, Guillaume, Behin, Anthony, Stojkovic, Tanya, Fontaine, Bertrand, Duboc, Denis, Dubourg, Olivier, Clair, Bernard, Laforet, Pascal, Annane, Djillali, Orlikowski, David
Publicado 2023