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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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.
Journal articles
hal-04031060v1
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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
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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
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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
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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
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Satellite Cell Self-Renewal
Lorenzo Giordani
,
Alice Parisi
,
Fabien Le Grand
Book sections
hal-04019080v1
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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.
Journal articles
hal-04019028v1
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Altered cytoskeleton in cardiac disease caused by nuclear A-type lamins gene mutations
Antoine Muchir
Conference , Myology, 2019, Bordeaux, France
Conference papers
hal-04000844v1
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Cytoskeleton and conduction defects
Antoine Muchir
Conference , GRRC, 2019, Lille, France
Conference papers
hal-04000841v1
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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
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Modulating Cytoskeleton Dynamics to Treat Cardiomyopathy Caused by LMNA Mutations
Antoine Muchir
Conference , Gordon Research Conference, 2022, Mount Snow, France
Conference papers
hal-04000832v1
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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
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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
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Pathogenesis of lamin A/C cardiomyopathy
Antoine Muchir
Conference , Netherlands Heart Institute, 2022, Online, Netherlands
Conference papers
hal-04000816v1
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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
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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
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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
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Rôle de la PARylation sur l’apparition des troubles cardiovasculaires dans la progéria de Hutchinson-Gilford
Déborah Cardoso
Theses
tel-03973171v1
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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
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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.
Journal articles
hal-03921784v1
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