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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.
International Journal of Molecular Sciences, 2022, 23 (4), ⟨10.3390/ijms23042016⟩
Article dans une revue hal-03585553v1

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.
Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51031⟩
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.
European Journal of Neurology, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩
Article dans une revue hal-03141476v2

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.
Neuromuscular Disorders, 2013, 23 (9-10), pp.741. ⟨10.1016/J.NMD.2013.06.384⟩
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.
Journal of Cell Biology, 2021, 220 (5), ⟨10.1083/jcb.202006035⟩
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.
Life Science Alliance, 2022, ⟨10.26508/lsa.202201506⟩
Article dans une revue hal-03454735v2

Calpain 3: a key regulator of the sarcomere?

Marc Bartoli , Stéphanie Duguez , Isabelle Richard
FEBS Journal, 2006, 273 (15), pp.3427-3436. ⟨10.1111/j.1742-4658.2006.05351.x⟩
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.
Molecular Therapy, 2007, 15 (1), pp.53-61. ⟨10.1038/sj.mt.6300022⟩
Article dans une revue hal-01610043v1

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.
Human Mutation, 2012, 33 (2), pp.429-439. ⟨10.1002/humu.21659⟩
Article dans une revue istex hal-01610024v1

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.
Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
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.
PLoS ONE, 2018, 13 (1), pp.e0191274. ⟨10.1371/journal.pone.0191274⟩
Article dans une revue hal-02333031v1

Cardiac characterization of sgca-null mice using high resolution echocardiography

Abdallah Fayssoil , Gilles Renault , Nicolas Guerchet , Carmen Marchiol-Fournigault , Françoise Fougerousse , et al.
Surgical Neurology International, 2013, 5 (4), pp.22. ⟨10.4081/ni.2013.e22⟩
Article dans une revue hal-02338023v1

Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies

Nicolas Vignier , Fatima Amor , Paul Fogel , Angélique Duvallet , Jérôme Poupiot , et al.
PLoS ONE, 2013, 8 (2), pp.e55281. ⟨10.1371/journal.pone.0055281⟩
Article dans une revue hal-02336920v1
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Calpaïnopathies : état des lieux et perspectives thérapeutiques.

Edoardo Malfatti , Isabelle Richard
Médecine/Sciences, 2020, 36, pp.17-21. ⟨10.1051/medsci/2020244⟩
Article dans une revue hal-03156855v1

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.
22nd International Congress of the World Muscle Society, Oct 2017, Saint Malo, France. pp.S195, ⟨10.1016/j.nmd.2017.06.367⟩
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.
Biomedicines, 2022, 10 (6), pp.1428. ⟨10.3390/biomedicines10061428⟩
Article dans une revue hal-03858917v1

A Mouse Model for Monitoring Calpain Activity under Physiological and Pathological Conditions

Marc Bartoli , Nathalie Bourg , Daniel Stockholm , F. Raynaud , Antony Delevacque , et al.
Journal of Biological Chemistry, 2006, 281 (51), pp.39672-39680. ⟨10.1074/jbc.M608803200⟩
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
Non-Coding RNA, 2022, 8 (4), pp.48. ⟨10.3390/ncrna8040048⟩
Article dans une revue hal-03874746v1

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.
Human Gene Therapy, 2013, 24 (4), pp.393-405. ⟨10.1089/hum.2012.208⟩
Article dans une revue hal-02338036v1

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.
Molecular Therapy, 2014, 22 (6), pp.1176-1187. ⟨10.1038/mt.2014.35⟩
Article dans une revue hal-02336897v1

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

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.
International Journal of Molecular Sciences, 2023, 24 (14), pp.11421. ⟨10.3390/ijms241411421⟩
Article dans une revue hal-04302872v1

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.
Journal of Biological Chemistry, 2006, 281 (51), pp.39672-39680. ⟨10.1074/jbc.M608803200⟩
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.
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
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.
Science Translational Medicine, 2010, 2 (50), ⟨10.1126/scitranslmed.3000951⟩
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.
Human Mutation, 2020, 41 (9), pp.1507-1513. ⟨10.1002/humu.24066⟩
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.
Skeletal Muscle, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩
Article dans une revue inserm-00805816v1