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Experimental cardiac radiation exposure induces ventricular diastolic dysfunction with preserved ejection fraction

Hirofumi Saiki , Gilles Moulay , Adam Guenzel , Weibin Liu , Teresa Decklever et al.
AJP - Heart and Circulatory Physiology, 2017, 313 (2), pp.H392-H407. ⟨10.1152/ajpheart.00124.2017⟩
Journal articles hal-02495344v1
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Centronuclear Myopathies

Norma B. Romero , Marc Bitoun
Seminars in Pediatric Neurology, 2011, 18 (4), pp.250-256. ⟨10.1016/j.spen.2011.10.006⟩
Journal articles hal-02451115v1
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Routine monitoring of isometric knee extension strength in patients with muscle impairments using a new portable device: cross-validation against a standard isokinetic dynamometer

Jean-Yves Hogrel , Olivier Benveniste , Damien Bachasson
Physiological Measurement, 2020, 41 (1), pp.015003. ⟨10.1088/1361-6579/ab6b49⟩
Journal articles hal-02530660v1
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Ultrastructure of the axonal periodic scaffold reveals a braid-like organization of actin rings

Stéphane Vassilopoulos , Solène Gibaud , Angélique Jimenez , Ghislaine Caillol , Christophe Leterrier et al.
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-13835-6⟩
Journal articles hal-02423801v1

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Pascal Laforêt , Michio Inoue , Evelyne Goillot , Claire Lefeuvre , Umut Cagin et al.
Acta Neuropathologica Communications, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩
Journal articles hal-02414161v1

Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3′ splice sites

Susanne Philippi , Stéphanie Lorain , Cyriaque Beley , Cécile Peccate , Guillaume Précigout et al.
Human Molecular Genetics, 2015, 24 (14), pp.4049-4060. ⟨10.1093/hmg/ddv141⟩
Journal articles hal-02408005v1
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Cardioprotective effects of α‐cardiac actin on oxidative stress in a dilated cardiomyopathy mouse model

Aude Angelini , Mark‐alexander Gorey , Florent Dumont , Nathalie Mougenot , Maria Chatzifrangkeskou et al.
FASEB Journal, In press, 34 (2), pp.2987-3005. ⟨10.1096/fj.201902389R⟩
Journal articles hal-02435155v1

In vivo pathogenicity of IgG from patients with anti-SRP or anti-HMGCR autoantibodies in immune-mediated necrotising myopathy

Cecile Bergua , Hélène Chiavelli , Yves Allenbach , Louiza Arouche-Delaperche , Christophe Arnoult et al.
Annals of the Rheumatic Diseases, 2018, 78 (1), pp.131-139. ⟨10.1136/annrheumdis-2018-213518⟩
Journal articles hal-02366089v1

Defective Ca2+ signaling in centronuclear myopathies.

Candice Kutchukian , Colline Sanchez , László Csernoch , P. Péter Szentesi , Pankaj B. Agrawal et al.
47th European Muscle Conference, Aug 2018, Budapest, Hungary
Conference papers hal-02349603v1

Comparison of MR T1 and T2 mapping parameters to characterize myocardial and skeletal muscle involvement in systemic idiopathic inflammatory myopathy (IIM)

Adrian Huber , Jérôme Lamy , Marine Bravetti , Khaoula Bouazizi , Tania Bacoyannis et al.
European Radiology, 2019, ⟨10.1007/s00330-019-06054-6⟩
Journal articles hal-02150194v1
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Pax3- and Pax7-mediated Dbx1 regulation orchestrates the patterning of intermediate spinal interneurons

Chris Gard , Gloria Gonzalez Curto , Youcef El-Mokhtar , Elodie Chollet , Nathalie Duval et al.
Developmental Biology, 2017, ⟨10.1016/j.ydbio.2017.06.014⟩
Journal articles hal-01545854v1
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The effect of constitutive inactivation of the myostatin gene on the gain in muscle strength during postnatal growth in two murine models

Amalia Stantzou , Vanessa Ueberschlag-Pitiot , Rémi Thomasson , Denis Furling , Anne Bonnieu et al.
Muscle & Nerve, 2016, 55 (2), pp.254-261. ⟨10.1002/mus.25220⟩
Journal articles hal-01346093v1
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Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1

Christine Schwartz , Martina Fischer , Kamel Mamchaoui , Anne Bigot , Thevy Lok et al.
Scientific Reports, 2017, 7 (1), pp.1253. ⟨10.1038/s41598-017-01324-z⟩
Journal articles hal-01518113v1

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

Natalia Niemir , Laura Rouvière , Aurore Besse , Marie Vanier , Jasmin Dmytrus et al.
Human Molecular Genetics, 2018, 27 (6), pp.954-968. ⟨10.1093/hmg/ddy012⟩
Journal articles hal-03862562v1

The Clinical Picture of Severe Systemic Capillary-Leak Syndrome Episodes Requiring ICU Admission

Marc Ruivard , Marc Pineton de Chambrun , Charles-Edouard Luyt , Francois Beloncle , Marie Gousseff et al.
Critical Care Medicine, 2017, 45 (7), pp.1216 - 1223. ⟨10.1097/CCM.0000000000002496⟩
Journal articles hal-01656772v1

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

David Mack , Karine Poulard , Melissa Goddard , Virginie Latournerie , Jessica Snyder et al.
Molecular Therapy, 2017, 25 (4), pp.839-854. ⟨10.1016/j.ymthe.2017.02.004⟩
Journal articles hal-02179363v1
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Giulia Coarelli , Rebecca Schüle , Bart P.C. van de Warrenburg , Peter de Jonghe , Claire Ewenczyk et al.
Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩
Journal articles hal-02171988v1
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Quiescence of human muscle stem cells is favored by culture on natural biopolymeric films

Claire Monge , Nicholas Distasio , Thomas Rossi , Muriel Sébastien , Hiroshi Sakai et al.
Stem Cell Research and Therapy, 2017, 8, pp.104. ⟨10.1186/s13287-017-0556-8⟩
Journal articles hal-01528567v1
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Reversal of immune-checkpoint inhibitor fulminant myocarditis using personalized-dose-adjusted abatacept and ruxolitinib: proof of concept

Lee Nguyen , Marie Bretagne , Jennifer Arrondeau , Noel Zahr , Stephane Ederhy et al.
Journal for Immunotherapy of Cancer, 2022, 10 (4), pp.e004699. ⟨10.1136/jitc-2022-004699⟩
Journal articles hal-03832478v1
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Intravenous immunoglobulin induces IL-4 in human basophils by signaling through 1 surface-bound IgE

Caroline C Galeotti , Emmanuel Stephen-Victor , Anupama Karnam , Mrinmoy Das , Laurent Gilardin et al.
Journal of Allergy and Clinical Immunology, 2019, 144 (2), pp.524-535.e8. ⟨10.1016/j.jaci.2018.10.064⟩
Journal articles hal-02284256v1
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Diaphragmatic function is enhanced in fatty and diabetic fatty rats

Audrey de Jong , Serge Carreira , Na Na , Aude Carillion , Cheng Jiang et al.
PLoS ONE, 2017, 12 (3), pp.e0174043. ⟨10.1371/journal.pone.0174043⟩
Journal articles hal-01502168v1
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Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing

Solenn M Guilbert , Déborah Cardoso , Nicolas Lévy , Antoine Muchir , Xavier Nissan et al.
Journal articles hal-02548462v1

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Emmanuelle Lagrue , Celine Dogan , Marie de Antonio , Frédérique Audic , Nathalie Bach et al.
Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
Journal articles hal-02097112v1
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PABPN1 gene therapy for oculopharyngeal muscular dystrophy

A. Malerba , P. Klein , H. Bachtarzi , S A Jarmin , G. Cordova et al.
Nature Communications, 2017, 8, pp.14848. ⟨10.1038/ncomms14848⟩
Journal articles hal-01959996v1

Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

S. Torelli , D. Scaglioni , V. Sardone , J. Domingos , A. Jones et al.
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩
Conference poster hal-03973454v1

The α2-subunit of the AP2 clathrin adaptor as a new causal gene in an atypical myopathy with granulofilamentous inclusions

Gilles Moulay , Isabelle Nelson , Jeanne Lainé , Enzo Cohen , Mégane Lemaître et al.
Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021
Conference poster hal-03967904v1

Nouvelle mutation d’épissage du gène POPDC1 (BVES) associée à des blocs de conduction cardiaque du 1er degré et une dystrophie musculaire

Isabelle Nelson , Maud Beuvin , Rabah Ben-Yaou , Cecile Masson , Anne Boland et al.
Conference poster hal-03986833v1

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Stéphanie Bauché , Delphine Boerio , Claire-Sophie Davoine , Véronique Bernard , Morgane Stum et al.
Neuromuscular Disorders, 2013, 23 (12), pp.998-1009. ⟨10.1016/j.nmd.2013.07.005⟩
Journal articles hal-03993872v1

Low-dose of peptide-conjugate antisense oligonucleotides targeting CUGexp-RNA in murine skeletal muscles normalizes Myotonic Dystrophy 1 phenotype

Arnaud F. Klein , Miguel A. Varela , Ludovic Arandel , Ashling Holland , Naira Naouar et al.
6th International Congress of Myology, Mar 2019, Bordeaux, France
Conference poster hal-04000552v1

Collagen VI deficiency: the heart of the matter

Margot Saunier , Corine Gartioux , Maud Beuvin , Nathalie Mougenot , Gisèle Bonne et al.
Printemps de la Cardiologie, Apr 2017, Nantes, France
Conference poster hal-03996993v1