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Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

Tanya Stojkovic , Marion Masingue , Helène Turmel , Marianne Hezode-Arzel , Anthony Béhin et al.
Neuromuscular Disorders, 2022, 32 (11-12), pp.870-878. ⟨10.1016/j.nmd.2022.10.001⟩
Journal articles hal-04074000v1

Target-agnostic drug discovery approach using informative high-content imaging for identification of a myogenic modulator in DM1 context

Florine Roussange , Amélie Weiss , Kalina Radoynovska , Jacqueline Gide , Johana Tournois et al.
International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan
Conference poster hal-04022935v1

MN dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type 1

Julie Tahraoui-Bories , Antoine Mérien , Florine Roussange , Anchel Gonzalez-Barriga , Jeanne Lainé et al.
International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan
Conference poster hal-04022921v1

DMPK promoter silencing by CRISPRi as a new therapeutic strategy in myotonic dystrophy type 1

Florent Porquet , S Ormenese , F Giroulle , L Massotte , S Freeman et al.
International Myotonic Dystrophy Consortium Meeting IDMC-12, Jun 2019, Gothenburg, Sweden
Conference poster hal-04022900v1

DMPK promoter silencing by CRISPRi as a new therapeutic strategy in myotonic dystrophy type 1

Florent Porquet , S Ormenese , F Giroulle , L Massotte , S Freeman et al.
2019 MDF annual conference, Sep 2019, Philadelphie, United States
Conference poster hal-04022843v1

DMPK promoter silencing by transcriptome editing as a new therapeutic strategy in myotonic dystrophy type 1

Florent Porquet , L Weidong , K Jehasse , S Blacher , L Massotte et al.
2020 MDF Annual Conference, Sep 2020, Virtual conference, United States
Conference poster hal-04022817v1

Highly efficient and specific DMPK promoter inhibition by CRISPRi in DM1 patient-derived myotubes

Florent Porquet , L Weidong , K Jehasse , H Gazon , S Blacher et al.
MDF Annual Conference, Sep 2021, Virtual conference, United States
Conference poster hal-04022777v1

Switch-off the trouble:DMPK promoter targeting by CRISPRi as an original specific therapy in DM1

Florent Porquet , L Weidong , K Jehasse , H Gazon , Maria Kondili et al.
7th international congress of Myology, Sep 2022, Nice, France
Conference poster hal-04022715v1

RNA-based approaches to reverse repeat expansion toxicity in Myotonic Dystrophy

Denis Furling
6th International Congress of Myology, AFM-Telethon, Mar 2019, Bordeaux, France
Conference papers hal-04020148v1

High Risk of Fatal and Non-Fatal Venous Thromboembolism in Myotonic Dystrophy

Maximilien Sochala , Raphaël Porcher , Tanya Stojkovic , Henri Marc Bécane , Anthony Béhin et al.
6th International Congress of Myology, Mar 2019, Bordeaux, France
Conference poster hal-04020135v1

Global Analysis of Peptide-PMO as a Therapeutic Modulator for Myotonic Dystrophy Type 1

Ashling Holland , Arnaud F Klein , Miguel Varela , R. Raz , Mike Gait et al.
6th International Congress of Myology, Mar 2019, Bordeaux, France
Conference poster hal-04020127v1

In vivo genome editing mediates resection of the CTG repeat expansion and decreases pathological signs in a mouse model of myotonic dystrophy type 1

Mirella Lo Scrutado , Karine Poulard , C. Sourd , Stéphanie Tomé , Arnaud F Klein et al.
6th International Congress of Myology, Mar 2019, Bordeaux, France
Conference poster hal-04020115v1

Generating Isogenic Myoblast Cell Models by CRISPR/Cas9-mediated Editing, Regulating and Targeting Genes in the Myotonic Dystrophy Type 1 (DM1) Locus

Ellen L van Agtmaal , Laurane M Andre , Mariekel Willemse , Remco van Cruchten , Ingeborg DGT van Kessel et al.
International Myotonic Dystrophy Consortium Meeting IDMC-11, International Myotonic Dystrophy Consortium, Sep 2017, San Francisco, United States
Conference papers hal-04019231v1

Multimodal Single Cell profiling of Duchenne Muscular Dystrophy

Cecile Peccate , Chiara D’ercole , Vaarany Karunanuthy , Cecile Bertholle , Brigitte Izac et al.
EMBO - Muscle formation, maintenance, regeneration and pathology, Apr 2022, Gouvieux, France
Conference poster hal-04019214v1

Immortalized Human Myotonic Dystrophy Muscle Cell Lines to Assess Therapeutic Compounds

Ludovic Arandel , Micaela Polay-Espinoza , Magdalena Matloka , Audrey Bazinet , Damily de Dea Diniz et al.
International Myotonic Dystrophy Consortium Meeting IDMC-11, International Myotonic Dystrophy Consortium, Sep 2017, San Francisco, United States
Conference papers hal-04019200v1

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1

Karim Wahbi , Caroline Chong-Nguyen , Vincent Algalarrondo , Henri Marc Becane , Pauline Arnaud et al.
International Myotonic Dystrophy Consortium Meeting IDMC-11, Sep 2017, San Francisco, United States
Conference poster hal-04019185v1
Image document

Role of MuscleBlind-Like proteins in the regulation of expression of CaVβ1 isoforms in adult skeletal muscle

Amélie Vergnol , Alain Sureau , A. Traoré , X. Lornage , G. Gourdon et al.
Myology 2022, Sep 2022, Nice (FRANCE), France
Conference poster hal-03999540v1
Image document

Role of MuscleBlind-Like proteins in the regulation of expression of CaVβ1 isoforms in adult skeletal muscle

Amélie Vergnol , Alain Sureau , A. Traoré , X. Lornage , G. Gourdon et al.
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse (FRANCE), France
Conference poster hal-03999589v1
Image document

Role of MuscleBlind-Like proteins in the regulation of expression of CaVβ1 isoforms in adult skeletal muscle

Amélie Vergnol , Alain Sureau , A. Traoré , X. Lornage , G. Gourdon et al.
World Muscle Society 2022, Oct 2022, Halifax (Canada), France
Conference poster hal-03999596v1

Model of human skeletal muscle in immunodeficient mice for the study of human muscle regeneration and therapies for muscle disorders

Gonzalo Cordova , Ludovic Arandel , Negroni Elisa , Fanny Roth , Alison Oliver et al.
Colloque Jeunes Chercheurs 2017 - Journées des familles, Jun 2017, Paris, France
Conference poster hal-04012483v1

Prox1 gene transfer combined with voluntary exercise improves dystrophic muscle fragility in Mdx mice.

Alexandra Monceau , Clément Delacroix , Mégane Lemaitre , Gaelle Revet , Denis Furling et al.
17th days of French Society of Myology, Nov 2019, Marseille (FRANCE), France
Conference poster hal-04011604v1
Image document

From voltage sensing to gene expression in the control of muscle mass homeostasis

Sestina Falcone , C. Benedetto , M Traoré , P. de la Grange , A. Ferry et al.
22nd World Muscle Society Congress, Oct 2017, Saint-Malo (France), France
Conference poster hal-04002388v1

Gene replacement therapy as a novel approach for the treatment of oculopharyngeal muscular dystrophy

Alberto Malerba , Pierre Klein , Houria Bachtarzi , Arnaud Ferry , Michael Graham et al.
45th European Muscle Conference, 2017, Montpellier, France
Conference papers hal-04011108v1

Upregulation of glial GLT1 glutamate transporter corrects Purkinje cell dysfunction and cerebellum-dependent motor incoordination in a mouse model of myotonic dystrophy

Diana Mihaela Dincã , Laurent Servais , Géraldine Sicot , Axelle Leroy , Cynthia Prigogine et al.
SAB Meeting, Apr 2017, Paris, France
Conference poster hal-04010282v1

Impact of the CTG repeat expansion on neuronal and astroglial physiology in myotonic dystrophy

Diana Mihaela Dincã , Géraldine Sicot , Aline Huguet-Lachon , Noémie Gueriba , Geneviève Gourdon et al.
Colloque des Jeunes Chercheurs, Jun 2017, Paris, France
Conference poster hal-04010254v1

A novel gene editing-based strategy for type 1 myotonic dystrophy

Mirella Lo Scrudato , Karine Poulard , Arnaud F Klein , Stéphanie Tomé , Geneviève Gourdon et al.
Annual Congress of the
 World Muscle Society, Oct 2017, Saint Malo, France
Conference poster hal-04010235v1

A single CAG or multiple CCG interruptions within the 5’ end of CTG repeat expansions are associated with contractions across generations and stabilization of the repeat in blood

Stéphanie Tomé , Elodie Dandelot , Céline Guiraud-Dogan , David Geneviève , Yann Péréon et al.
International Myotonic Dystrophy Consortium Meeting, Sep 2017, San Francisco, United States
Conference poster hal-04010211v1

Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism

Stéphanie Tomé , Elodie Dandelot , Céline Guiraud-Dogan , Alexis Bertrand , David Geneviève et al.
International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy
Conference poster hal-04010176v1

Analyze the role of interruptions in triplet nucleotide repeats diseases: cellular model strategy and Flash-Small-Pool-PCR

Elodie Dandelot , Stéphanie Tomé , Geneviève Gourdon
International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy
Conference poster hal-04010160v1

Atypical Myotonic Dystrophy type 1 families and CTG repeats interruptions

Elodie Dandelot , Stéphanie Tomé , Céline Guiraud-Dogan , Yann Péréon , Pascal Cintas et al.
Young Researchers of Imagine Institute, May 2018, Paris, France
Conference poster hal-04010074v1