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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Fernande Freyermuth
,
Frédérique Rau
,
Yosuke Kokunai
,
Thomas Linke
,
Chantal Sellier
,
et al.
Article dans une revue
hal-01301863v1
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Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle
Pauline Roy
,
Fredérique Rau
,
Julien Ochala
,
Julien Messéant
,
Bodvael Fraysse
,
et al.
Article dans une revue
hal-01357455v1
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Cells of Matter—In Vitro Models for Myotonic Dystrophy
Magdalena Matloka
,
Arnaud F Klein
,
Frédérique Rau
,
Denis Furling
Article dans une revue
hal-03830776v1
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Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing
Yu-Chih Tsai
,
Laure de Pontual
,
Cheryl Heiner
,
T. Stojkovic
,
Denis Furling
,
et al.
PacBio users 2022, May 2022, Paris, France
Communication dans un congrès
hal-04004337v1
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Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing
Yu-Chih Tsai
,
Laure de Pontual
,
Chéryl Heiner
,
Tanya Stojkovic
,
Denis Furling
,
et al.
FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada
Communication dans un congrès
hal-04004408v1
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CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing
Ellen L. van Agtmaal
,
Laurène M. André
,
Marieke Willemse
,
Sarah A. Cumming
,
Ingeborg D.G. van Kessel
,
et al.
Article dans une revue
hal-01429815v1
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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
Communication dans un congrès
hal-04020148v1
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Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle.
Andrie Koutsoulidou
,
Nikolaos Mastroyiannopoulos
,
Denis Furling
,
James Uney
,
Leonidas Phylactou
Article dans une revue
inserm-00668415v1
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FISH protocol for Myotonic Dystrophy type 1 cells
Arnaud F. Klein
,
Ludovic Arandel
,
Joëlle Marie
,
Denis Furling
Chapitre d'ouvrage
hal-02996909v1
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RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1
Roscoe Klinck
,
Angélique Fourrier
,
Philippe Thibault
,
Johanne Toutant
,
Mathieu Durand
,
et al.
Article dans une revue
hal-01365880v1
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Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing.
Yu-Chih Tsai
,
Laure de Pontual
,
Cheryl Heiner
,
Tanya Stojkovic
,
Denis Furling
,
et al.
Myology 2022, Sep 2022, Nice, France
Poster de conférence
hal-04005603v1
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Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
Remco T P van Cruchten
,
Daniël van As
,
Jeffrey C Glennon
,
Baziel G M van Engelen
,
K Okkersen
,
et al.
Article dans une revue
hal-03848010v1
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High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy
Maximilien Sochala
,
Raphaël Porcher
,
Tanya Stojkovic
,
Henri Marc Bécane
,
Anthony Behin
,
et al.
Article dans une revue
hal-02357318v1
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576. A Novel Gene Editing-Based Strategy for Myotonic Dystrophy Type 1
Mirella Lo Scrudato
,
Samia Martin
,
Geneviève Gourdon
,
Denis Furling
,
Ana Buj-Bello
Article dans une revue
hal-03159325v1
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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
Poster de conférence
hal-04010235v1
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Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes
Sumitava Dastidar
,
Debanjana Majumdar
,
Jaitip Tipanee
,
Kshitiz Singh
,
Arnaud Klein
,
et al.
Article dans une revue
hal-03410645v1
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MBNL loss of function in motoneurons leads to motor unit dysfunction in myotonic dystrophy
Charles Frison-Roche
,
Steve Cottin
,
Jeanne Lainé
,
Ludovic Arandel
,
Marius Halliez
,
et al.
7th International Myology Congress, Sep 2022, Nice, France
Poster de conférence
hal-04005838v1
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miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy
Maria Sabater-Arcis
,
Ariadna Bargiela
,
Denis Furling
,
Ruben Artero
Article dans une revue
hal-02530984v1
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Replicative aging down-regulates the myogenic regulatory factors in human myoblasts
Anne Bigot
,
Virginie Jacquemin
,
Florence Debacq-Chainiaux
,
Gillian Butler-Browne
,
Olivier Toussaint
,
et al.
Article dans une revue
istex
hal-03833741v1
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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
Poster de conférence
hal-04010282v1
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Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
Frédérique Rau
,
Fernande Freyermuth
,
Charlotte Fugier
,
Jean-Philippe Villemin
,
Marie-Christine Fischer
,
et al.
Article dans une revue
istex
hal-03339571v1
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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.
Article dans une revue
hal-01346093v1
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Nouvelle méthode de Séquençage à longue lecture dans la DM1: vers une caractérisation génotype-phénotype affinée
Yu-Chih Tsai
,
Cheryl Heiner
,
Tanya Stojkovic
,
Denis Furling
,
Guillaume Bassez
,
et al.
Conference E-Rare, Sep 2022, Paris, France
Poster de conférence
hal-04007021v1
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The beneficial effect of chronic muscular exercise on muscle fragility is increased by Prox1 gene transfer in dystrophic mdx muscle
Alexandra Monceau
,
Clément Delacroix
,
Mégane Lemaitre
,
Gaelle Revet
,
Denis Furling
,
et al.
Article dans une revue
hal-03830867v1
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Cardiovascular manifestations of Myotonic Dystrophy
Karim Wahbi
,
Denis Furling
Article dans une revue
hal-02357309v1
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Precise small-molecule recognition of a toxic CUG RNA repeat expansion
Suzanne Rzuczek
,
Lesley Colgan
,
Yoshio Nakai
,
Michael Cameron
,
Denis Furling
,
et al.
Article dans une revue
hal-03830973v1
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MBNL-dependent impaired development connectivity within neuromuscular circuits in myotonic dystrophy type 1
Julie Tahraoui-Bories
,
Antoine Mérien
,
Florine Roussange
,
Anchel González-Barriga
,
Jeanne Lainé
,
et al.
International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan
Poster de conférence
hal-04006954v1
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MBNL dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type.
Julie Tahraoui-Bories
,
Antoine Mérien
,
Jeanne Lainé
,
Florine Roussange
,
Anchel González-Barriga
,
et al.
Myology 2022, Sep 2022, Nice, France
Poster de conférence
hal-04005593v1
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CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis
Antoine Mérien
,
Julie Tahraoui-Bories
,
Michel Cailleret
,
Jean-Baptiste Dupont
,
Céline Leteur
,
et al.
Article dans une revue
hal-03830948v1
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Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
Frédérique Rau
,
Jeanne Lainé
,
Laetitita Ramanoudjame
,
Arnaud Ferry
,
Ludovic Arandel
,
et al.
Article dans une revue
hal-01162385v1
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