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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.
Journal articles
hal-04074000v1
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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