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Autophagy determines efficiency of liver-directed gene therapy with adeno-associated viral vectors

M. Hosel , A. Huber , S. Bohlen , J. Lucifora , G. Ronzitti , et al.
Hepatology, 2017, 66 (1), pp.252-265. ⟨10.1002/hep.29176⟩
Journal articles hal-02880988v1

Bioengineering a Miniaturized In Vitro 3D Myotube Contraction Monitoring Chip To Model Muscular Dystrophies

Nicolas Rose , Berenice Estrada Chavez , Surabhi Sonam , Thao Nguyen , Gianluca Grenci , et al.
Journal articles hal-03278692v1

Cavβ1: The missing link from voltage sensing to muscle mass homeostasis

Massiré Traoré
15th Interuniversity Institute of Myology Meeting, Pathogenesis and Therapies of Neuromuscular Diseases, Oct 2018, Assise, Italy
Conference poster hal-03997593v1

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

Systemic Delivery of Peptide-Conjugated Antisense Oligonucleotides Leads to Long-Lasting Correction of Myotonic Dystrophy Type I

Arnaud F. Klein , Miguel A. Varela , Ludovic Arandel , Ashling Holland , Naira Naouar , et al.
International Myotonic Dystrophy Consortium Meeting IDMC-12, International Myotonic Dystrophy Consortium, Jun 2019, Gothenburg, Sweden
Conference papers hal-03998386v1

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

Effect of voluntary physical activity initiated at age 7 months on skeletal hindlimb and cardiac muscle function in mdx mice of both genders

Arnaud Ferry , Rachid Benchaouir , Pierre Joanne , Rachel A. Peat , Nathalie Mougenot , et al.
Muscle & Nerve, 2015, 52 (5), pp.788-794. ⟨10.1002/mus.24604⟩
Journal articles istex hal-01545442v1

Exon Skipping in a Dysf-Missense Mutant Mouse Model

Jakub Malcher , Leonie Heidt , Aurélie Goyenvalle , Helena Escobar , Andreas Marg , et al.
Molecular Therapy - Nucleic Acids, 2018, 13, pp.198-207. ⟨10.1016/j.omtn.2018.08.013⟩
Journal articles hal-02407941v1

Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment

Valérie Robin , Graziella Griffith , John-Paul Carter , Christian Leumann , Luis Garcia , et al.
Molecular Therapy - Nucleic Acids, 2017, 7, pp.81-89. ⟨10.1016/j.omtn.2017.02.009⟩
Journal articles hal-02407957v1

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

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Virginie Mariot , Romain Joubert , Christophe Hourdé , Léonard Feasson , Michael Hanna , et al.
Nature Communications, 2017, 8 (1), ⟨10.1038/s41467-017-01486-4⟩
Journal articles hal-02167071v1

Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov , et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086226v1

Solve-NMD in Paris: Project results

Isabelle Nelson , German Demidov , Enzo Cohen , Aurélien Perrin , Mireille Cossée , et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers hal-04086236v1

The French OPALE registry update

Rabah Ben Yaou
LMNA consortium Meeting at Institute of Health Carlos III – ISCIII, Oct 2017, Madrid, Spain
Conference papers hal-03986859v1

WP3 Task 3. Treatabolome

Antonio Atalaia , Gisèle Bonne
Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain
Conference papers hal-03986988v1

[Rhabdomyolysis and anemia in a 25 year-old man].

B. Lioger , C. Le Pendu , W. Mounfaloti , Yves Allenbach
La Revue de Médecine Interne, 2021, 42 (9), pp.669-671. ⟨10.1016/j.revmed.2021.08.007⟩
Journal articles hal-03832510v1

[Dermatomyositis: new antibody, new classification].

Loïs Bolko , Cyril Gitiaux , Yves Allenbach
Médecine/Sciences, 2019, 35, pp.18-23. ⟨10.1051/medsci/2019178⟩
Journal articles hal-03832528v1

Obestatin controls the ubiquitin-proteasome and autophagy-lysosome systems in glucocorticoid-induced muscle cell atrophy

Tania Cid-Díaz , Icía Santos-Zas , Jessica González-Sánchez , Uxía Gurriarán-Rodríguez , Carlos Mosteiro , et al.
Journal of Cachexia, Sarcopenia and Muscle, 2017, 8 (6), pp.974-990. ⟨10.1002/jcsm.12222⟩
Journal articles hal-03832665v1

Inflammatory Myopathies: Issues in diagnosis and management

Olivier Benveniste
Virtual Agrim Neurology Update 2020, Oct 2020, NA, France
Conference papers hal-03831909v1

Nesprin-1α-dependent microtubule nucleation from the nuclear envelope via Akap450 is necessary for nuclear positioning in muscle cells

Cadot Bruno
COST, 2017, Prague, Czech Republic
Conference papers hal-03946194v1

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío Villar-Quiles , Sandra Donkervoort , Alix de Becdelièvre , Corine Gartioux , Valérie Jobic , et al.
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.633-645. ⟨10.3233/JND-200577⟩
Journal articles hal-04074044v1

Anti-PM-Scl antibodies–positive patients encompass three different groups with distinct prognoses

Paul Breillat , Kuberaka Mariampillai , Paul Legendre , Pauline Martins , Bertrand Dunogue , et al.
Journal articles hal-03830880v1

MDA5 helicase domains identified as the main targets of anti-MDA5 autoantibodies in european dermatomyositis patients

Eveline Van Gompel , Catia Cerqueira , Karine Chemin , Begum Horuluoglu , Angeles Shunashy Galindo- Feria , et al.
American College of Rheumatology Convergence, ACR 2021, Nov 2021, San Diego, United States. 73 (S9), pp.1-4259, 2021, ⟨10.1002/art.41966⟩
Conference poster hal-03831280v1

Anti-MDA5 autoantibodies in myositis patients specifically target the Helicase domains of the MDA5 protein

Eveline Van Gompel , Catia Cerqueira , Begum Horuluoglu , Angeles Shunashy Galindo- Feria , Karine Chemin , et al.
6th European Congress of Immunology virtual, Sep 2021, Nottingham, United Kingdom
Conference papers hal-03831292v1

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

Megan Waldrop , Rabah Ben Yaou , Karin Lucas , Ann Martin , Erin O’rourke , et al.
Journal of Neuromuscular Diseases, 2020, 7 (3), pp.217-229. ⟨10.3233/JND-200483⟩
Journal articles inserm-04010286v1

Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy

F Azibani , A Brull , L Arandel , M Beuvin , I Nelson , et al.
Conference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy, Oct 2018, Lausanne, Switzerland. Hum. Gene Ther., 29 (12), pp.A138. P379, 2018
Conference poster hal-03983935v1

Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy

A Brull , I Nelson , M Beuvin , F Azibani , Gisèle Bonne , et al.
ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. Hum. Gene Ther., 30 (11), pp.P484, 2019
Conference poster hal-03983916v1

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.
9èmes Assises de génétique humaine et médicale, Jan 2018, Nantes, France.
Conference poster hal-03986833v1

Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variant

Gisèle Bonne
Webinaire de la Filière en Santé Filnemus, May 2023, Paris, France
Conference papers hal-04189577v1

The Treatabolome flags treatable genes and variants: an emerging concept

Gisèle Bonne
NC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France
Conference papers hal-04189545v1