Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

116 résultats
Page :
triés par

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

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
Image document

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

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

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
Image document

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
Image document

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

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
Image document

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

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

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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

Dual muscle-liver transduction imposes immune tolerance for muscle transgene engraftment despite preexisting immunity

 Laurent Bartolo , Stéphanie Li Chung Tong , Pascal Chappert , Dominique Urbain , Fanny Collaud , et al.
JCI Insight, 2019, 4 (11), ⟨10.1172/jci.insight.127008⟩
Article dans une revue hal-04324422v1

Dual Effects of Exercise in Dysferlinopathy

 Olivier Biondi , Marie Villemeur , Alice Marchand , Fabrice Chrétien , Nathalie Bourg , et al.
American Journal of Pathology, 2013, 182 (6), pp.2298-2309. ⟨10.1016/j.ajpath.2013.02.045⟩
Article dans une revue hal-02338049v1

Changement climatique et pratiques agricoles

 Karine Weiss , Isabelle Richard , Elisabeth Guillou
Dorothée Marchand; Sandrine Depeau; Karine Weiss. L’individu au risque de l’environnement : regards croisés de la psychologie environnementale, In Press, pp.299-322, 2014, Ouvertures Psy, 978-2-84835-286-2
Chapitre d'ouvrage hal-02355488v1

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

 A. Vihola , H. Luque , M. Savarese , S. Penttilä , M. Lindfors , et al.
Neuropathology and Applied Neurobiology, 2018, 44 (5), pp.441-448. ⟨10.1111/nan.12410⟩
Article dans une revue hal-02333045v1
Image document

Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model

 Camille Vaubourg , Evelyne Gicquel , Isabelle Richard , William Lostal , Jessica Bellec
Journal of Neuromuscular Diseases, 2021, 8 (5), pp.785-793. ⟨10.3233/JND-200487⟩
Article dans une revue hal-03003866v2

Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle

 Adrien Morin , Amalia Stantzou , Olga Petrova , John Hildyard , Thomas Tensorer , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (2), ⟨10.1073/pnas.2206324120⟩
Article dans une revue hal-04302715v1
Image document

Calpains for dummies: What you need to know about the calpain family

 Simone Spinozzi , Sonia Albini , Heather Best , Isabelle Richard
Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2021, 1869 (5), pp.140616. ⟨10.1016/j.bbapap.2021.140616⟩
Article dans une revue hal-03156874v1
Page :