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Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
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System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution
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Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation
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Optimizing diagnosis of neuromuscular diseases by high-through-put sequencing: Genetic characterization and classification of sequence variants
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Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
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Mechanisms of myostatin and activin A accumulation in chronic kidney disease
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
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Article dans une revue
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Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
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Article dans une revue
hal-03520705
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
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Article dans une revue
hal-03977684
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Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
Rémi Bos
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Article dans une revue
hal-04323628
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Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes
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European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
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hal-03751530
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A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases
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Clinical Genetics, In press
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Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle
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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
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Article dans une revue
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
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Article dans une revue
hal-03547908
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
Théo Charnay
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Article dans une revue
hal-03667258
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Mathieu Cerino
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Article dans une revue
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Refining NGS diagnosis of muscular disorders
Mathieu Cerino
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Article dans une revue
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Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports
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Article dans une revue
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CRISP(R)ation musculaire
Océane Ballouhey
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Article dans une revue
hal-02901910
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Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy
Mathieu Cerino
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hal-03222418
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Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1
Lara El-Bazzal
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hal-02152040
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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
Janice Dominov
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Annals of Clinical and Translational Neurology, 2019, 6 (4), pp.642-654. ⟨10.1002/acn3.738⟩
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hal-02346918
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche
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hal-02406985
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Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo
Julie Warnez-Soulie
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Article dans une revue
hal-02075571
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Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet
Florian Barthelemy
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Article dans une revue
hal-01717649
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VarAFT: a variant annotation and filtration system for human next generation sequencing data
Jean-Pierre Desvignes
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hal-01852493
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing
Mathieu Cerino
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hal-01741741
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Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse model
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Article dans une revue
hal-01764668
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
Karine Nguyen
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Article dans une revue
hal-01614514
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A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome
Valerie Matagne
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Article dans une revue
hal-01426386
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Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency
Rabah Ben Yaou
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hal-04010378
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Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
Amandine Sevy
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Article dans une revue
hal-01469052
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Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
Caroline Lacoste
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Journal of Genetics, 2016, 95 (1), pp.203-208
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hal-01469051
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Marie-Cécile Gaillard
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hal-01378417
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Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides
Virginie Kergourlay
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Annals of Clinical and Translational Neurology, 2015, 2 (7), pp.783-784. ⟨10.1002/acn3.216⟩
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hal-01610015
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
Emmanuelle Salort Campana
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hal-01610016
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Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells
Florian Barthelemy
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Vincent Mouly
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Article dans une revue
hal-01662831
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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
Svetlana Gorokhova
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Sebastien Courrier
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Article dans une revue
hal-01610017
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Clinical massively parallel sequencing for the diagnosis of myopathies
Svetlana Gorokhova
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Article dans une revue
hal-01610014
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Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers
Emmanuelle Martinez
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Article dans une revue
hal-01480288
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study
Florian Barthelemy
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Racha Fayek
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Article dans une revue
hal-01597886
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype
Francesca Puppo
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Eugénie Dionnet
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Marie-Cécile Gaillard
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Pascaline Gaildrat
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Christel Castro
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Article dans une revue
hal-01662841
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ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A
Oihane Jaka
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Margarita Azpitarte
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Coro Paisan-Ruiz
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Miren Zulaika
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Article dans une revue
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hal-01610018
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
Marie-Cécile Gaillard
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Camille Dion
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Armand Tasmadjian
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Article dans une revue
hal-01610019
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EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS
Marc Bartoli
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Article dans une revue
hal-01610020
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Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene
Virginie Kergourlay
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Ghadi Rai
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Gaëlle Blandin
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David Salgado
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Article dans une revue
hal-01610021
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A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
Gaëlle Blandin
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Nathalie Danièle
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Article dans une revue
inserm-00805816
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The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5
Florence Le Roy
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Jérôme Poupiot
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Article dans une revue
hal-02336935
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
Johann Böhm
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André Maues de Paula
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Catherine Koch
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Shahram Attarian
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Article dans une revue
hal-01610022
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.
Nathalie Caruso
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Balàzs Herberth
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Marc Bartoli
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Francesca Puppo
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Julie Dumonceaux
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Article dans une revue
hal-00862092
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Restriction of Calpain3 Expression to the Skeletal Muscle Prevents Cardiac Toxicity and Corrects Pathology in a Murine Model of Limb-Girdle Muscular Dystrophy
Carinne Roudaut
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Laurence Suel
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Jérôme Poupiot
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Karine Charton
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Article dans une revue
hal-01610023
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
Natacha Broucqsault
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Julia Morere
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Marie-Cécile Gaillard
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Julie Dumonceaux
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Julia Torrents
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Article dans une revue
hal-01662672
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FURTHER HETEROGENEITY IN MYOPATHY WITH TUBULAR AGGREGATES?
André Maues de Paula
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Marc Bartoli
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Sebastien Courrier
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Jean Pouget
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Nicolas Lévy
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Article dans une revue
istex
hal-01610027
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Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy
William Lostal
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Carinne Roudaut
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Nathalie Bourg
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Martin Krahn
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Article dans une revue
hal-01610028
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UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene
Gaëlle Blandin
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Christophe Béroud
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Veronique Labelle
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Karine Nguyen
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Nicolas Wein
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Article dans une revue
hal-01610025
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Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications
Tayebeh Soheili
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Evelyne Gicquel
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Jérôme Poupiot
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Luu N'Guyen
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Florence Le Roy
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Article dans une revue
istex
hal-01610024
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Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes
Marc Bartoli
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P. Negre
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N. Wein
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Patrice Bourgeois
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C. Pecheux
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Article dans une revue
istex
hal-01610026
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Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
M. Krahn
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M. Goicoechea
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F. Hanisch
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E. Groen
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Marc Bartoli
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Article dans une revue
istex
hal-01610030
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Translational Research and Therapeutic Perspectives in Dysferlinopathies
Florian Barthelemy
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Nicolas Wein
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Martin Krahn
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Nicolas Lévy
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Marc Bartoli
Article dans une revue
hal-01610029
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Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer
William Lostal
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Marc Bartoli
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Nathalie Bourg
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Carinne Roudaut
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Azéddine Bentaib
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Article dans une revue
istex
hal-01610036
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A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy
Martin Krahn
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Nicolas Wein
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Marc Bartoli
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William Lostal
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Sebastien Courrier
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Article dans une revue
hal-01610037
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Immunolabelling and flow cytometry as new tools to explore dysferlinopathies
C. Fossat
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D. Depetris
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F. Leturcq
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P. Cau
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Nicolas Lévy
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Article dans une revue
hal-01610032
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A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor‐κB pathway in skeletal muscle
Lydie Laure
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Nathalie Danièle
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Laurence Suel
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Sylvie Marchand
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Sophie Aubert
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Article dans une revue
hal-01610035
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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping
Nicolas Wein
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Aurélie Avril
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Marc Bartoli
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Cyriaque Beley
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Soraya Chaouch
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Article dans une revue
hal-01610031
v1
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Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients
Martin Krahn
,
Veronique Labelle
,
Ana Borges
,
Marc Bartoli
,
Nicolas Lévy
Article dans une revue
hal-01610033
v1
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Therapeutic exon `switching' for dysferlinopathies?
Nicolas Lévy
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Nicolas Wein
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Florian Barthelemy
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Vincent Mouly
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Luis Garcia
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Article dans une revue
hal-01610034
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Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling
Lydie Laure
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Laurence Suel
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Carinne Roudaut
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Nathalie Bourg
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Ahmed Ouali
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Article dans une revue
hal-01610040
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Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases
Ronald L. Mellgren
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Katsuya Miyake
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Irina Kramerova
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Melissa J. Spencer
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Nathalie Bourg
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Article dans une revue
hal-01610039
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Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
Marc Bartoli
,
Evelyne Gicquel
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Laetitia Barrault
,
Tayebeh Soheili
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Marie Malissen
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Article dans une revue
hal-00294192
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NF‐NF ‐κ BB‐dependent expression of the antiapoptotic factor c‐FLIP is regulated by calpain 3, the protein involved in limb‐girdle muscular dystrophy type 2A
Béatrice Benayoun
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Stephen Baghdiguian
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Alicia Lajmanovich
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Marc Bartoli
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Nathalie Daniele
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Article dans une revue
hal-03674309
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NF-kappa B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A
Beatrice Benayoun
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Stephen Baghdiguian
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Alicia Lajmanovich
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Marc Bartoli
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Nathalie Danièle
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Article dans une revue
hal-01610041
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A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay
Astrid Milic
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Nathalie Danièle
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Hanns Lochmueller
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Marina Mora
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Giacomo P. Comi
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Article dans une revue
istex
hal-01610045
v1
|
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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-01610043
v1
|
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AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency
Marc Bartoli
,
J. Poupiot
,
A. Vulin
,
F. Fougerousse
,
L. Arandel
et al.
Article dans une revue
hal-01610042
v1
|
|
Ins and outs of therapy in limb girdle muscular dystrophies
Marc Bartoli
,
Nathalie Danièle
,
Isabelle Richard
Article dans une revue
istex
hal-01610044
v1
|
|
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-01610049
v1
|
|
Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies
Marc Bartoli
,
J Poupiot
,
A Goyenvalle
,
N Perez
,
L Garcia
et al.
Article dans une revue
hal-01610046
v1
|
|
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A
Marc Bartoli
,
C Roudaut
,
S Martin
,
F Fougerousse
,
L Suel
et al.
Article dans une revue
hal-01610047
v1
|
|
Calpain 3: a key regulator of the sarcomere?
Marc Bartoli
,
Stéphanie Duguez
,
Isabelle Richard
Article dans une revue
hal-01610048
v1
|
|
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-03674304
v1
|
|
Imaging calpain protease activity by multiphoton FRET in living mice
D Stockholm
,
Marc Bartoli
,
G Sillon
,
N Bourg
,
J Davoust
et al.
Article dans une revue
istex
hal-01610050
v1
|
|
Calpains in muscle wasting
Marc Bartoli
,
I Richard
Article dans une revue
istex
hal-01610051
v1
|
|
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components
M Taveau
,
N Bourg
,
G Sillon
,
C Roudaut
,
Marc Bartoli
et al.
Article dans une revue
hal-01610052
v1
|
|
Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1
S Gaillard
,
Marc Bartoli
,
F Castets
,
A Monneron
Article dans une revue
istex
hal-01610053
v1
|