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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

Alteration of performance in a mouse model of Emery–Dreifuss muscular dystrophy caused by A-type lamins gene mutation

Rémi Thomasson , Nicolas Vignier , Cecile Peccate , Nathalie Mougenot , Philippe Noirez et al.
Human Molecular Genetics, 2019, 28 (13), pp.2237-2244. ⟨10.1093/hmg/ddz056⟩
Journal articles hal-04031060v1

Multimodal Single Cell profiling of Duchenne Muscular Dystrophy

Laura Virtanen , Cécile Peccate , Chiara D’ercole , Vaarany Karunanithy , Cindy Bertholon et al.
Myology Conference 2022, Sep 2022, Nice, France
Conference poster hal-04019783v1

Multimodal Single Cell profiling of Duchenne Muscular Dystrophy

Lorenzo Giordani , Cecile Peccate , Chiara D’ercole , Vaarany Karunanuthy , Cecile Bertholle et al.
12th Japanese-French Workshop - New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France
Conference papers hal-04019299v1

Multimodal Single Cell profiling of Duchenne Muscular Dystrophy

Lorenzo Giordani , Laura Virtanen , Chiara d'Ercole , Vaarany Karunanuthy , Cecile Bertholle et al.
Single Cell Genomics Meeting 2022, Oct 2022, Utrecht, Netherlands
Conference poster hal-04019279v1

Spatially resolved transcriptomics reveals innervation-responsive functional clusters in skeletal muscle

Lorenzo Giordani , Chiara D’ercole , Paolo D’angelo , Veronica Ruggieri , Daisy Proietti et al.
INTERNATIONAL CONFERENCE ON MUSCLE WASTING - Molecular mechanisms of muscle growth and wasting in health and disease, Sep 2022, Ascona, Switzerland
Conference papers hal-04019261v1

Satellite Cell Self-Renewal

Lorenzo Giordani , Alice Parisi , Fabien Le Grand
Myogenesis in Development and Disease, 126, Elsevier, pp.177-203, 2018, Current Topics in Developmental Biology, ⟨10.1016/bs.ctdb.2017.08.001⟩
Book sections hal-04019080v1

Spatially resolved transcriptomics reveals innervation-responsive functional clusters in skeletal muscle

Chiara D’ercole , Paolo D’angelo , Veronica Ruggieri , Daisy Proietti , Laura Virtanen et al.
Cell Reports, 2022, 41 (12), pp.111861. ⟨10.1016/j.celrep.2022.111861⟩
Journal articles hal-04019028v1

Le nicotinamide riboside améliore la fonction cardiaque d’un modèle murin de cardiomyopathie dilatée due à des mutations du gène LMNA.

Nicolas Vignier
Journée de la societe française de Myologie, Nov 2018, Brest, France
Conference poster hal-04012945v1

Transcriptomic analysis of soleus muscle from a mouse model of Emery-Dreifuss muscular dystrophy

Nicolas Vignier
MYOLOGY, Mar 2019, Bardeaux, France
Conference poster hal-04012925v1

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Nicolas Vignier
MYOLOGY, Sep 2022, Nice, France
Conference poster hal-04012905v1

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Nicolas Vignier
Journée de la societe française de Myologie, Nov 2021, Saint Etienne (FR), France
Conference poster hal-04012882v1

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Nicolas Vignier
18th IIM Meeting, Oct 2021, Distanciel zoom, Italy
Conference poster hal-04012868v1

Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers

Mona Bensalah , Laura Muraine , Alexis Boulinguiez , Lorenzo Giordani , Victorine Albert et al.
Myology 2022, Sep 2022, Nice, France
Conference papers hal-04011420v1

A negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis

Mona Bensalah , Laura Muraine , Alexis Boulinguiez , Lorenzo Giordani , Victorine Albert et al.
12th French-Japanese workshop, Sep 2022, Giverny, France
Conference papers hal-04011411v1
Image document

GDF5 therapeutic potential for DMD

Christel Gentil , Lucile Saillard , Amélie Vergnol , Lorenzo Giordani , Bruno Cadot et al.
Myology 2022, Sep 2022, Nice, France
Conference poster hal-03994325v1
Image document

GDF5 therapeutic potential for DMD

Christel Gentil , Lucile Saillard , Amélie Vergnol , Lorenzo Giordani , Bruno Cadot et al.
SFM 2021, Nov 2021, St Etienne, France
Conference poster hal-03994315v1

Altered cytoskeleton in cardiac disease caused by nuclear A-type lamins gene mutations

Antoine Muchir
Conference, Myology, 2019, Bordeaux, France
Conference papers hal-04000844v1

Cytoskeleton and conduction defects

Antoine Muchir
Conference, GRRC, 2019, Lille, France
Conference papers hal-04000841v1

Microtubule modifications in cardiomyopathy caused by A-type lamins mutations

Antoine Muchir
Conference, 36th Annual Meeting of the International Society for Heart Research (European Section), 2022, Online, France
Conference papers hal-04000838v1

Modulating Cytoskeleton Dynamics to Treat Cardiomyopathy Caused by LMNA Mutations

Antoine Muchir
Conference, Gordon Research Conference, 2022, Mount Snow, France
Conference papers hal-04000832v1

Impact of Lamin mutations in cardiomyopathies

Antoine Muchir
Conference, Workshop on the nuclear envelope, mechanobiology and rare disease, 2022, Singapore, France
Conference papers hal-04000829v1

Le ciblage de la PARylation améliore les anomalies aortiques chez le modèle murin de la progéria d’Hutchinson-Gilford

Antoine Muchir
Conference, 2022, Paris, France
Conference papers hal-04000823v1

Pathogenesis of lamin A/C cardiomyopathy

Antoine Muchir
Conference, Netherlands Heart Institute, 2022, Online, Netherlands
Conference papers hal-04000816v1

Mécanismes nucléaires et synaptiques identifiés dans une nouvelle mutation TOR1AIP1 associée à la myasthénie des ceintures- Rôle de LAP1 dans la fonction NMJ et la pathologie

Stéphanie Bauché , Edoardo Malfatti , Morgane Euchparmakian , Antoine Muchir
journée réseau nationale syndrome myasthénies congénitaux, Sep 2022, Paris, France
Conference papers hal-03994357v1

New mutation in the beta 1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome

Stéphanie Bauché , Marion Masingue , Olivia Cattaneo , Damien Sternberg , Céline Buon et al.
journées de la société française de myologie, Nov 2022, Toulouse, France
Conference poster hal-03994163v1

New mutation in the beta 1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome

Stéphanie Bauché , Olivia Cattaneo , Damien Sternberg , Céline Buon , Morgane Euchparmakian et al.
Myology, Sep 2022, Nice, France
Conference poster hal-03994152v1
Image document

Rôle de la PARylation sur l’apparition des troubles cardiovasculaires dans la progéria de Hutchinson-Gilford

Déborah Cardoso
Médecine humaine et pathologie. Sorbonne Université, 2022. Français. ⟨NNT : 2022SORUS020⟩
Theses tel-03973171v1

Frontiers in Public Health

Nicolas Vignier , Sohela Moussaoui , Antoine Marsaudon , Jérome Wittwer , Florence Jusot et al.
Frontiers in Public Health, 2022, 10
Journal articles hal-03959709v1
Image document

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations

Caroline Le Dour , Maria Chatzifrangkeskou , Coline Macquart , Maria M Magiera , Cécile Peccate et al.
Nature Communications, 2022, 13 (1), pp.7886. ⟨10.1038/s41467-022-35639-x⟩
Journal articles hal-03921784v1