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Co-Administration of Simvastatin Does Not Potentiate the Benefit of Gene Therapy in the mdx Mouse Model for Duchenne Muscular Dystrophy
Nathalie Bourg
,
Ai Vu Hong
,
William Lostal
,
Abbass Jaber
,
Nicolas Guerchet
,
et al.
Article dans une revue
hal-03585553v1
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An integrin-targeting AAV developed using a novel computational rational design methodology presents improved targeting of the skeletal muscle and reduced liver tropism
Ai Vu Hong
,
Laurence Suel
,
Jérôme Poupiot
,
Isabelle Richard
2023
Pré-publication, Document de travail
hal-04310212v1
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A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Aurélien Perrin
,
Corinne Metay
,
Marcello Villanova
,
Robert-Yves Carlier
,
Elena Pegoraro
,
et al.
Article dans une revue
hal-02573441v1
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Raquel Guimarães-Costa
,
Gorka Fernández-Eulate
,
Karim Wahbi
,
France Leturcq
,
Edoardo Malfatti
,
et al.
Article dans une revue
hal-03141476v2
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O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
R. Joubert
,
C. Moal
,
A. Vignaud
,
S. Martín
,
I. Richard
,
et al.
Article dans une revue
istex
hal-03159348v1
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Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair
Goutam Chandra
,
Sen Chandra Sreetama
,
Davi A.G. Mázala
,
Karine Charton
,
Jack H Vandermeulen
,
et al.
Article dans une revue
hal-03358287v1
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Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in Duchenne muscular dystrophy
Ai Vu Hong
,
Nathalie Bourg
,
Peggy Sanatine
,
Jerome Poupiot
,
Karine Charton
,
et al.
Article dans une revue
hal-03454735v2
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Calpain 3: a key regulator of the sarcomere?
Marc Bartoli
,
Stéphanie Duguez
,
Isabelle Richard
Article dans une revue
hal-01610048v1
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Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector
Françoise Fougerousse
,
Marc Bartoli
,
Jérôme Poupiot
,
Ludovic Arandel
,
Muriel Durand
,
et al.
Article dans une revue
hal-01610043v1
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Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications
Tayebeh Soheili
,
Evelyne Gicquel
,
Jérôme Poupiot
,
Luu N'Guyen
,
Florence Le Roy
,
et al.
Article dans une revue
istex
hal-01610024v1
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Rainiero Ávila-Polo
,
Edoardo Malfatti
,
Xavière Lornage
,
Chrystel Cheraud
,
Isabelle Nelson
,
et al.
Article dans une revue
hal-02332968v1
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Different outcome of sarcoglycan missense mutation between human and mouse
Sara F Henriques
,
Cécile Patissier
,
Nathalie Bourg
,
Chiara Fecchio
,
Doriana Sandona
,
et al.
Article dans une revue
hal-02333031v1
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Cardiac characterization of sgca-null mice using high resolution echocardiography
Abdallah Fayssoil
,
Gilles Renault
,
Nicolas Guerchet
,
Carmen Marchiol-Fournigault
,
Françoise Fougerousse
,
et al.
Article dans une revue
hal-02338023v1
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Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies
Nicolas Vignier
,
Fatima Amor
,
Paul Fogel
,
Angélique Duvallet
,
Jérôme Poupiot
,
et al.
Article dans une revue
hal-02336920v1
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Calpaïnopathies : état des lieux et perspectives thérapeutiques.
Edoardo Malfatti
,
Isabelle Richard
Article dans une revue
hal-03156855v1
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Integrated analysis of the large-scale sequencing project ``Myocapture'' to identify novel genes for myopathies
J. Bohm
,
R. Schneider
,
E. Malfatti
,
V. Schartner
,
X. Lornage
,
et al.
Communication dans un congrès
hal-01741738v1
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Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies
Celine Bruge
,
Marine Geoffroy
,
Manon Benabides
,
Emilie Pellier
,
Evelyne Gicquel
,
et al.
Article dans une revue
hal-03858917v1
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A Mouse Model for Monitoring Calpain Activity under Physiological and Pathological Conditions
Marc Bartoli
,
Nathalie Bourg
,
Daniel Stockholm
,
F. Raynaud
,
Antony Delevacque
,
et al.
Article dans une revue
hal-03674304v1
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Deciphering the Molecular Mechanism of Incurable Muscle Disease by a Novel Method for the Interpretation of miRNA Dysregulation
David Israeli
,
Ai Vu Hong
,
Guillaume Corre
,
Quentin Miagoux
,
Isabelle Richard
Article dans une revue
hal-03874746v1
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Prolonged Gene Expression in Muscle Is Achieved Without Active Immune Tolerance Using MicrorRNA 142.3p-Regulated rAAV Gene Transfer
Florence Boisgérault
,
David-Alexandre Gross
,
Maxime Ferrand
,
Jérôme Poupiot
,
Sylvie Darocha
,
et al.
Article dans une revue
hal-02338036v1
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Cis -splicing and Translation of the Pre- Trans -splicing Molecule Combine With Efficiency in Spliceosome-mediated RNA Trans -splicing
François Monjaret
,
Nathalie Bourg
,
Laurence Suel
,
Carinne Roudaut
,
Florence Le Roy
,
et al.
Article dans une revue
hal-02336897v1
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Natural history of LGMD2A for delineating outcome measures in clinical trials
Isabelle Richard
,
Jean-Yves Hogrel
,
Daniel Stockholm
,
Christine Payan
,
Françoise Fougerousse
,
et al.
Annals of Clinical and Translational Neurology, 2016, 3 (4), pp.248-265. ⟨10.1002/acn3.287⟩
Article dans une revue
hal-02333084v1
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Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies
Jocelyn Laporte
,
Raphael Schneider
,
Edoardo Malfatti
,
Gisèle Bonne
,
France Leturcq
,
et al.
9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
Communication dans un congrès
hal-03986850v1
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Assessment of Therapeutic Potential of a Dual AAV Approach for Duchenne Muscular Dystrophy
Sonia Albini
,
Laura Palmieri
,
Auriane Dubois
,
Nathalie Bourg
,
William Lostal
,
et al.
Article dans une revue
hal-04302872v1
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Fibroblasts-dependent maturation and phenotype exacerbation of dystrophic hiPSC-derived MYOtissues enables muscle strength evaluation for gene therapy screening
Laura Palmieri
,
Melissa Moula
,
Abbass Jaber
,
Riyad El-Khoury
,
Guy Brochiet
,
et al.
2023
Pré-publication, Document de travail
hal-04302927v1
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A mouse model for monitoring calpain activity under physiological and pathological conditions
Marc Bartoli
,
Nathalie Bourg
,
Daniel Stockholm
,
Fabrice Raynaud
,
Antony Delevacque
,
et al.
Article dans une revue
hal-01610049v1
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Making sense of missense variants in TTN-related congenital myopathies
Martin Rees
,
Roksana Nikoopour
,
Atsushi Fukuzawa
,
Ay Lin Kho
,
Miguel A Fernandez-Garcia
,
et al.
Article dans une revue
hal-03156853v2
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A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy
Martin Krahn
,
Nicolas Wein
,
Marc Bartoli
,
William Lostal
,
Sebastien Courrier
,
et al.
Article dans une revue
hal-01610037v1
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A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity
John Vissing
,
Julia Dahlqvist
,
Carinne Roudaut
,
Jerome Poupiot
,
Isabelle Richard
,
et al.
Article dans une revue
hal-03335781v2
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A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
Gaëlle Blandin
,
Sylvie Marchand
,
Karine Charton
,
Nathalie Danièle
,
Evelyne Gicquel
,
et al.
Article dans une revue
inserm-00805816v1
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