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.
Journal articles
hal-02880988v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Journal articles
hal-02366089v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Journal articles
istex
hal-01545442v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Exon Skipping in a Dysf-Missense Mutant Mouse Model
Jakub Malcher
,
Leonie Heidt
,
Aurélie Goyenvalle
,
Helena Escobar
,
Andreas Marg
,
et al.
Journal articles
hal-02407941v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment
Valérie Robin
,
Graziella Griffith
,
John-Paul Carter
,
Christian Leumann
,
Luis Garcia
,
et al.
Journal articles
hal-02407957v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Journal articles
hal-02408005v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Journal articles
hal-02167071v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
WP3 Task 3. Treatabolome
Antonio Atalaia
,
Gisèle Bonne
Solve-RD Annual Meeting , Mar 2020, Barcelona, Spain
Conference papers
hal-03986988v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
[Rhabdomyolysis and anemia in a 25 year-old man].
B. Lioger
,
C. Le Pendu
,
W. Mounfaloti
,
Yves Allenbach
Journal articles
hal-03832510v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
[Dermatomyositis: new antibody, new classification].
Loïs Bolko
,
Cyril Gitiaux
,
Yves Allenbach
Journal articles
hal-03832528v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
hal-03832665v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Inflammatory Myopathies: Issues in diagnosis and management
Olivier Benveniste
Virtual Agrim Neurology Update 2020 , Oct 2020, NA, France
Conference papers
hal-03831909v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
hal-04074044v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
inserm-04010286v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More