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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01400-0
By:
- Labasse, Clémence;
- Brochier, Guy;
- Taratuto, Ana-Lia;
- Cadot, Bruno;
- Rendu, John;
- Monges, Soledad;
- Biancalana, Valérie;
- Quijano-Roy, Susana;
- Bui, Mai Thao;
- Chanut, Anaïs;
- Madelaine, Angéline;
- Lacène, Emmanuelle;
- Beuvin, Maud;
- Amthor, Helge;
- Servais, Laurent;
- de Feraudy, Yvan;
- Erro, Marcela;
- Saccoliti, Maria;
- Neto, Osorio Abath;
- Fauré, Julien
Publication type:
Article
Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 2, p. 239, doi. 10.15252/emmm.201707988
By:
- Trochet, Delphine;
- Prudhon, Bernard;
- Beuvin, Maud;
- Peccate, Cécile;
- Lorain, Stéphanie;
- Julien, Laura;
- Benkhelifa‐Ziyyat, Sofia;
- Rabai, Aymen;
- Mamchaoui, Kamel;
- Ferry, Arnaud;
- Laporte, Jocelyn;
- Guicheney, Pascale;
- Vassilopoulos, Stéphane;
- Bitoun, Marc
Publication type:
Article
Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy.
Published in:
PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023094
By:
- Rederstorff, Mathieu;
- Castets, Perrine;
- Arbogast, Sandrine;
- Lainé, Jeanne;
- Vassilopoulos, Stéphane;
- Beuvin, Maud;
- Dubourg, Odile;
- Vignaud, Alban;
- Ferry, Arnaud;
- Krol, Alain;
- Allamand, Valérie;
- Guicheney, Pascale;
- Ferreiro, Ana;
- Lescure, Alain
Publication type:
Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0655-5
By:
- Garibaldi, Matteo;
- Rendu, John;
- Brocard, Julie;
- Lacene, Emmanuelle;
- Fauré, Julien;
- Brochier, Guy;
- Beuvin, Maud;
- Labasse, Clemence;
- Madelaine, Angeline;
- Malfatti, Edoardo;
- Bevilacqua, Jorge Alfredo;
- Lubieniecki, Fabiana;
- Monges, Soledad;
- Taratuto, Ana Lia;
- Laporte, Jocelyn;
- Marty, Isabelle;
- Antonini, Giovanni;
- Romero, Norma Beatriz
Publication type:
Article
Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients.
Published in:
Molecular Therapy, 2014, v. 22, n. 11, p. 1923, doi. 10.1038/mt.2014.151
By:
- Le Guiner, Caroline;
- Montus, Marie;
- Servais, Laurent;
- Cherel, Yan;
- Francois, Virginie;
- Thibaud, Jean-Laurent;
- Wary, Claire;
- Matot, Béatrice;
- Larcher, Thibaut;
- Guigand, Lydie;
- Dutilleul, Maeva;
- Domenger, Claire;
- Allais, Marine;
- Beuvin, Maud;
- Moraux, Amélie;
- Le Duff, Johanne;
- Devaux, Marie;
- Jaulin, Nicolas;
- Guilbaud, Mickaël;
- Latournerie, Virginie
Publication type:
Article
Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment.
Published in:
Annals of Neurology, 2009, v. 65, n. 6, p. 677, doi. 10.1002/ana.21644
By:
- Arbogast, Sandrine;
- Beuvin, Maud;
- Fraysse, Bodvaël;
- Zhou, Haïyan;
- Muntoni, Francesco;
- Ferreiro, Ana
Publication type:
Article
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 11, p. 2220, doi. 10.1093/hmg/ddw090
By:
- Chatzifrangkeskou, Maria;
- Le Dour, Caroline;
- Wei Wu;
- Morrow, John P.;
- Joseph, Leroy C.;
- Beuvin, Maud;
- Sera, Fusako;
- Homma, Shunichi;
- Vignier, Nicolas;
- Mougenot, Nathalie;
- Bonne, Gisèle;
- Lipson, Kenneth E.;
- Worman, Howard J.;
- Muchir, Antoine
Publication type:
Article
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 5, p. 1037, doi. 10.1093/hmg/ddr534
By:
- Bertrand, Anne T.;
- Renou, Laure;
- Papadopoulos, Aurélie;
- Beuvin, Maud;
- Lacène, Emmanuelle;
- Massart, Catherine;
- Ottolenghi, Chris;
- Decostre, Valérie;
- Maron, Sophia;
- Schlossarek, Saskia;
- Cattin, Marie-Elodie;
- Carrier, Lucie;
- Malissen, Marie;
- Arimura, Takuro;
- Bonne, Gisèle
Publication type:
Article
Novel role of Tieg1 in muscle metabolism and mitochondrial oxidative capacities.
Published in:
Acta Physiologica, 2020, v. 228, n. 3, p. 1, doi. 10.1111/apha.13394
By:
- Kammoun, Malek;
- Piquereau, Jerome;
- Nadal‐Desbarats, Lydie;
- Même, Sandra;
- Beuvin, Maud;
- Bonne, Gisèle;
- Veksler, Vladimir;
- Le Fur, Yann;
- Pouletaut, Philippe;
- Même, William;
- Szeremeta, Frederic;
- Constans, Jean‐Marc;
- Bruinsma, Elizabeth S.;
- Nelson Holte, Molly H.;
- Najafova, Zeynab;
- Johnsen, Steven A.;
- Subramaniam, Malayannan;
- Hawse, John R.;
- Bensamoun, Sabine F.
Publication type:
Article
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup> mouse model of centronuclear myopathy.
Published in:
Journal of Physiology, 2017, v. 595, n. 24, p. 7369, doi. 10.1113/JP274990
By:
- Kutchukian, Candice;
- Szentesi, Peter;
- Allard, Bruno;
- Trochet, Delphine;
- Beuvin, Maud;
- Berthier, Christine;
- Tourneur, Yves;
- Guicheney, Pascale;
- Csernoch, Laszlo;
- Bitoun, Marc;
- Jacquemond, Vincent
Publication type:
Article
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 4, p. 694, doi. 10.1093/hmg/ddq515
By:
- Castets, Perrine;
- Bertrand, Anne T.;
- Beuvin, Maud;
- Ferry, Arnaud;
- Le Grand, Fabien;
- Castets, Marie;
- Chazot, Guillaume;
- Rederstorff, Mathieu;
- Krol, Alain;
- Lescure, Alain;
- Romero, Norma B.;
- Guicheney, Pascale;
- Allamand, Valérie
Publication type:
Article
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 24, p. 4820, doi. 10.1093/hmg/ddq413
By:
- Durieux, Anne-Cécile;
- Vignaud, Alban;
- Prudhon, Bernard;
- Viou, Mai Thao;
- Beuvin, Maud;
- Vassilopoulos, Stéphane;
- Fraysse, Bodvaël;
- Ferry, Arnaud;
- Lainé, Jeanne;
- Romero, Norma B.;
- Guicheney, Pascale;
- Bitoun, Marc
Publication type:
Article
Prolonged mechanical ventilation worsens sepsis-induced diaphragmatic dysfunction in the rat.
Published in:
PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0200429
By:
- Le Dinh, Matthieu;
- Carreira, Serge;
- Obert, Julie;
- Gayan-Ramirez, Ghislaine;
- Riou, Bruno;
- Beuvin, Maud;
- Similowski, Thomas;
- Coirault, Catherine;
- Demoule, Alexandre
Publication type:
Article
Diaphragmatic function is enhanced in fatty and diabetic fatty rats.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174043
By:
- De Jong, Audrey;
- Carreira, Serge;
- Na, Na;
- Carillion, Aude;
- Jiang, Cheng;
- Beuvin, Maud;
- Lacorte, Jean-Marc;
- Bonnefont-Rousselot, Dominique;
- Riou, Bruno;
- Coirault, Catherine
Publication type:
Article

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