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Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1277
By:
- Cerino, Mathieu;
- Di Meglio, Chloé;
- Albertini, Francesca;
- Audic, Frédérique;
- Riccardi, Florence;
- Boulay, Christophe;
- Philip, Nicole;
- Bartoli, Marc;
- Lévy, Nicolas;
- Krahn, Martin;
- Chabrol, Brigitte
Publication type:
Article
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data.
Published in:
European Heart Journal, 2021, v. 42, n. 20, p. 1976, doi. 10.1093/eurheartj/ehab054
By:
- Porcher, Raphaël;
- Desguerre, Isabelle;
- Amthor, Helge;
- Chabrol, Brigitte;
- Audic, Frédérique;
- Rivier, François;
- Isapof, Arnaud;
- Tiffreau, Vincent;
- Campana-Salort, Emmanuelle;
- Leturcq, France;
- Tuffery-Giraud, Sylvie;
- Yaou, Rabah Ben;
- Annane, Djillali;
- Amédro, Pascal;
- Barnerias, Christine;
- Bécane, Henri Marc;
- Béhin, Anthony;
- Bonnet, Damien;
- Bassez, Guillaume;
- Cossée, Mireille
Publication type:
Article
Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy.
Published in:
Muscle & Nerve, 2021, v. 64, n. 4, p. 445, doi. 10.1002/mus.27372
By:
- Boulay, Christophe;
- Delmont, Emilien;
- Audic, Frédérique;
- Chabrol, Brigitte;
- Attarian, Shahram
Publication type:
Article
Severe Phenotype in Patients with Large Deletions of NF1.
Published in:
Cancers, 2021, v. 13, n. 12, p. 2963, doi. 10.3390/cancers13122963
By:
- Pacot, Laurence;
- Vidaud, Dominique;
- Sabbagh, Audrey;
- Laurendeau, Ingrid;
- Briand-Suleau, Audrey;
- Coustier, Audrey;
- Maillard, Théodora;
- Barbance, Cécile;
- Morice-Picard, Fanny;
- Sigaudy, Sabine;
- Glazunova, Olga O.;
- Damaj, Lena;
- Layet, Valérie;
- Quelin, Chloé;
- Gilbert-Dussardier, Brigitte;
- Audic, Frédérique;
- Dollfus, Hélène;
- Guerrot, Anne-Marie;
- Lespinasse, James;
- Julia, Sophie
Publication type:
Article
Quick and sustained clinical response to MEK inhibitor I in a NF1 patient with neurofibromas.
Published in:
Ecancermedicalscience, 2018, v. 12, n. 844-874, p. 1, doi. 10.3332/ecancer.2018.862
By:
- Papalia, Honoré;
- Audic, Frédérique;
- Rivière, Gabriel Revon;
- Verschuur, Arnauld;
- André, Nicolas
Publication type:
Article
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Published in:
2021
By:
- Pisella, Lucie Isoline;
- Fernandes, Sara;
- Solé, Guilhem;
- Stojkovic, Tanya;
- Tard, Céline;
- Chanson, Jean-Baptiste;
- Bouhour, Françoise;
- Salort-Campana, Emmanuelle;
- Beaudonnet, Guillemette;
- Debergé, Louise;
- Duval, Fanny;
- Grapperon, Aude-Marie;
- Masingue, Marion;
- Nadaj-Pakleza, Aleksandra;
- Péréon, Yann;
- Audic, Frédérique;
- Behin, Anthony;
- Friedman, Diane;
- Magot, Armelle;
- Noury, Jean-Baptiste
Publication type:
journal article
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Published in:
2020
By:
- Audic, Frédérique;
- de la Banda, Marta Gomez Garcia;
- Bernoux, Delphine;
- Ramirez-Garcia, Paola;
- Durigneux, Julien;
- Barnerias, Christine;
- Isapof, Arnaud;
- Cuisset, Jean-Marie;
- Cances, Claude;
- Richelme, Christian;
- Vuillerot, Carole;
- Laugel, Vincent;
- Ropars, Juliette;
- Altuzarra, Cécilia;
- Espil-Taris, Caroline;
- Walther-Louvier, Ulrike;
- Sabouraud, Pascal;
- Chouchane, Mondher;
- Vanhulle, Catherine;
- Trommsdorff, Valérie
Publication type:
journal article
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Published in:
Journal of Neurology, 2024, v. 271, n. 9, p. 5778, doi. 10.1007/s00415-024-12538-3
By:
- Attarian, Shahram;
- Beloribi-Djefaflia, Sadia;
- Bernard, Rafaelle;
- Nguyen, Karine;
- Cances, Claude;
- Gavazza, Carole;
- Echaniz-Laguna, Andoni;
- Espil, Caroline;
- Evangelista, Teresinha;
- Feasson, Léonard;
- Audic, Frédérique;
- Zagorda, Berenice;
- Milhe De Bovis, Virginie;
- Stojkovic, Tanya;
- Sole, Guilhem;
- Salort-Campana, Emmanuelle;
- Sacconi, Sabrina
Publication type:
Article
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03326-3
By:
- Desguerre, Isabelle;
- Barrois, Rémi;
- Audic, Frédérique;
- Barnerias, Christine;
- Chabrol, Brigitte;
- Davion, Jean Baptiste;
- Durigneux, Julien;
- Espil-Taris, Caroline;
- Gomez-Garcia de la Banda, Marta;
- Guichard, Marine;
- Isapof, Arnaud;
- Nougues, Marie Christine;
- Laugel, Vincent;
- Le Goff, Laure;
- Mercier, Sandra;
- Pervillé, Anne;
- Richelme, Christian;
- Thibaud, Marie;
- Sarret, Catherine;
- Schweitzer, Cyril
Publication type:
Article
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1242277
By:
- Morel, Victor;
- Audic, Frédérique;
- Tardy, Charlotte;
- Verschueren, Annie;
- Attarian, Shahram;
- Nguyen, Karine;
- Salort-Campana, Emmanuelle;
- Krahn, Martin;
- Chabrol, Brigitte;
- Gorokhova, Svetlana
Publication type:
Article

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