Marc Bartoli

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Documents

Affiliations actuelles

527039

Identifiants chercheurs

marc-bartoli
0000-0003-3339-9858
IdRef : 157731502

Publications

	A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy Océane Ballouhey , Marie Chapoton , Benedicte Alary , Sébastien Courrier , Nathalie Da da Silva Biomedicines, 2023, 11 (5), pp.1438. ⟨10.3390/biomedicines11051438⟩ Article dans une revue hal-04190207v1
	Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation Stanislas Bataille , Nathalie Mckay , Laetitia Koppe , Alice Beau , Bérengère Benoit Nephrology Dialysis Transplantation, 2023, ⟨10.1093/ndt/gfad123⟩ Article dans une revue hal-04254193v1
	Mechanisms of myostatin and activin A accumulation in chronic kidney disease Stanislas Bataille , Laetitia Dou , Marc Bartoli , Marion Sallée , Julien Aniort Nephrology Dialysis Transplantation, 2022, 37 (7), pp.1249-1260. ⟨10.1093/ndt/gfac136⟩ Article dans une revue hal-03670060v1
	Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49 Mario Abaji , Svetlana Gorokhova , Nathalie da Silva , Tiffany Busa , Maude Grelet Genes, 2022, 13 (7), ⟨10.3390/genes13071277⟩ Article dans une revue hal-03780226v1
	Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩ Article dans une revue hal-03751530v1
	Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 Rémi Bos , Khalil Rihan , Patrice Quintana , Lara El-Bazzal , Nathalie Bernard-Marissal Neurobiology of Disease, 2022, 164, pp.105609. ⟨10.1016/j.nbd.2021.105609⟩ Article dans une revue hal-04323628v1
	Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H Lara El-Bazzal , Adeline Ghata , Clothilde Esteve , Jihane Gadacha , Patrice Quintana Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac402⟩ Article dans une revue hal-04323648v1
	Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H Lara El-Bazzal , Adeline Ghata , Clothilde Esteve , Jihane Gadacha , Patrice Quintana Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac402⟩ Article dans une revue hal-03977684v1
	Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder Khaoula Rochdi , Mathieu Cerino , Nathalie da Silva , Valérie Delague , Aymane Bouzidi Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩ Article dans une revue hal-03678846v1
	Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306 Article dans une revue hal-03678838v1
	Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population Mathieu Cerino , Patricio Gonzalez-Hormazabal , Mario Abaji , Sebastien Courrier , Francesca Puppo Genes, 2022, 13 (6), ⟨10.3390/genes13061076⟩ Article dans une revue hal-03780367v1
	Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 Rémi Bos , Khalil Rihan , Patrice Quintana , Lara El-Bazzal , Nathalie Bernard-Marissal Neurobiology of Disease, 2022, 164, pp.105609. ⟨10.1016/j.nbd.2021.105609⟩ Article dans une revue hal-03520705v1
	Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle Alexandra Salvi , André Maues de Paula , Nicolas Levy , Shahram Attarian , Marc Bartoli Frontiers in Physiology, 2021, 12, ⟨10.3389/fphys.2021.663677⟩ Article dans une revue hal-03188937v1
	Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients Théo Charnay , Véronique Blanck , Mathieu Cerino , Marc Bartoli , Florence Riccardi Genetics in Medicine, 2021, 23 (8), pp.1574 - 1577. ⟨10.1038/s41436-021-01164-3⟩ Article dans une revue hal-03667258v1
	Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients Théo Charnay , Véronique Blanck , Mathieu Cerino , Marc Bartoli , Florence Riccardi Genetics in Medicine, 2021, 23 (8), pp.1574-1577. ⟨10.1038/s41436-021-01164-3⟩ Article dans une revue hal-03547908v1
	A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases Alexandra Salvi , Skrypnyk Cristina , Nathalie da Silva , Jon Andoni Urtizberea , Bakhiet Moiz Clinical Genetics, inPress Article dans une revue hal-03184458v2
	The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions Océane Ballouhey , Sébastien Courrier , Virginie Kergourlay , Svetlana Gorokhova , Mathieu Cerino Frontiers in Cell and Developmental Biology, 2021, 9, ⟨10.3389/fcell.2021.754555⟩ Article dans une revue hal-03660761v1
	A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports Mark Gorokhov , Mathieu Cerino , Jeremie Mortreux , Florence Riccardi , Nicolas Lévy Scientific Reports, 2020, 10 (1), pp.6247. ⟨10.1038/s41598-020-63079-4⟩ Article dans une revue inserm-02749937v1
	Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay Eugénie Dionnet , Aurélia Defour , Nathalie da Silva , Alexandra Salvi , Nicolas Levy Human Mutation, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩ Article dans une revue hal-02959280v1
	Refining NGS diagnosis of muscular disorders Mathieu Cerino , Emmanuelle Salort-Campana , Svetlana Gorokhova , Amandine Sevy , Nathalie Bonello-Palot Journal of Neurology, Neurosurgery and Psychiatry, 2020, jnnp-2018-319254. ⟨10.1136/jnnp-2018-319254⟩ Article dans une revue hal-02959292v1
	Novel CAPN3 variant associated with an autosomal dominant calpainopathy Mathieu Cerino , Emmanuelle Salort-Campana , Alexandra Salvi , P Cintas , D. Renard Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩ Article dans une revue hal-02901906v1
	Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy Mathieu Cerino , Chloé Di Meglio , Francesca Albertini , Frédérique Audic , Florence Riccardi Molecular Genetics & Genomic Medicine, 2020, 8 (8), ⟨10.1002/mgg3.1277⟩ Article dans une revue hal-03222418v1
	CRISP(R)ation musculaire Océane Ballouhey , Marc Bartoli , Nicolas Levy Médecine/Sciences, 2020, 36 (4), pp.358-366. ⟨10.1051/medsci/2020081⟩ Article dans une revue hal-02901910v1
	Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1 Lara El-Bazzal , Khalil Rihan , Nathalie Bernard-Marissal , Christel Castro , Eliane Chouery-Khoury Human Molecular Genetics, 2019, ⟨10.1093/hmg/ddz060⟩ Article dans une revue hal-02152040v1
	Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation Janice Dominov , Özgün Uyan , Diane Mckenna‐yasek , Babi Ramesh Reddy Nallamilli , Virginie Kergourlay Annals of Clinical and Translational Neurology, 2019, 6 (4), pp.642-654. ⟨10.1002/acn3.738⟩ Article dans une revue hal-02346918v1
	Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩ Article dans une revue hal-02406985v1
	Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo Julie Warnez-Soulie , Michael Macia , Sophie Lac , Emilie Pecchi , Monique Bernard Physiological Reports, 2019, 7 (10), pp.e14055. ⟨10.14814/phy2.14055⟩ Article dans une revue hal-02075571v2
	Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet Florian Barthelemy , Aurélia Defour , Nicolas Lévy , Martin Krahn , Marc Bartoli Journal of Neuromuscular Diseases, 2018, 5 (1), pp.21 - 28. ⟨10.3233/JND-170251⟩ Article dans une revue hal-01717649v1
	VarAFT: a variant annotation and filtration system for human next generation sequencing data Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩ Article dans une revue hal-01852493v1
	Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩ Article dans une revue hal-01741741v1
	Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency Rabah Ben Yaou , Aurelie Hubert , Isabelle Nelson , Julia R. Dahlqvist , David Gaist Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩ Article dans une revue hal-04010378v2
	A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Valerie Matagne , Yann Ehinger , Lydia Saidi , Ana Borges-Correia , Martine Barkats Neurobiology of Disease, 2017, 99, ⟨10.1016/j.nbd.2016.12.009⟩ Article dans une revue hal-01426386v1
	Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩ Article dans une revue hal-01614514v1
	Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse model J. Warnez-Soulie , B. Giannesini , S. Henri , I. Richard , Bernard Malissen Neuromuscular Disorders, 2017, 27 (2), pp.S143-S144. ⟨10.1016/j.nmd.2017.06.185⟩ Article dans une revue hal-01764668v1
	Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard Journal of Genetics, 2016, 95 (1), pp.203-208 Article dans une revue hal-01469051v1
	Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Campana Salort BMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩ Article dans une revue hal-01378417v1
	Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing Amandine Sevy , Mathieu Cerino , Svetlana Gorokhova , Eugénie Dionnet , Yves Mathieu Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (3), pp.340-U116. ⟨10.1136/jnnp-2014-309663⟩ Article dans une revue hal-01469052v1
	Clinical massively parallel sequencing for the diagnosis of myopathies Svetlana Gorokhova , V. Biancalana , Nicolas Lévy , J. Laporte , Marc Bartoli Revue Neurologique, 2015, 171 (6-7), pp.558-571. ⟨10.1016/j.neurol.2015.02.019⟩ Article dans une revue hal-01610014v1
	Truncated prelamin A expression in HGPS-like patients: a transcriptional study Florian Barthelemy , Claire L. Navarro , Racha Fayek , Nathalie da Silva , Patrice Roll European Journal of Human Genetics, 2015, 23 (8), pp.1051 - 1061. ⟨10.1038/ejhg.2014.239⟩ Article dans une revue hal-01597886v1
	Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype Francesca Puppo , Eugénie Dionnet , Marie-Cécile Gaillard , Pascaline Gaildrat , Christel Castro Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩ Article dans une revue hal-01662841v1
	Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells Florian Barthelemy , Cedric Blouin , Nicolas Wein , Vincent Mouly , Sebastien Courrier Journal of Neuromuscular Diseases, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩ Article dans une revue hal-01662831v1
	Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders Svetlana Gorokhova , Mathieu Cerino , Yves Mathieu , Sebastien Courrier , Jean-Pierre Desvignes Applied & Translational Genomics, 2015, 7, pp.26-31. ⟨10.1016/j.atg.2015.07.006⟩ Article dans une revue hal-01610017v1
	Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides Virginie Kergourlay , Gaëlle Blandin , Veronique Blanck , Nicolas Lévy , Marc Bartoli Annals of Clinical and Translational Neurology, 2015, 2 (7), pp.783-784. ⟨10.1002/acn3.216⟩ Article dans une revue hal-01610015v1
	Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study Emmanuelle Salort Campana , Karine Nguyen , Rafaelle Bernard , Elisabeth Jouve , Guilhem Solé Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩ Article dans une revue hal-01610016v1
	Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers Emmanuelle Martinez , Françoise Silvy , Fréderic Fina , Marc Bartoli , Martin Krahn Oncotarget, 2015, 24 (6), pp.39855-39864. ⟨10.18632/oncotarget.5627⟩ Article dans une revue hal-01480288v1
	Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene Virginie Kergourlay , Ghadi Rai , Gaëlle Blandin , David Salgado , Christophe Béroud Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩ Article dans une revue hal-01610021v1
	Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers Marie-Cécile Gaillard , Stéphane Roche , Camille Dion , Armand Tasmadjian , Gwenaelle Bouget Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩ Article dans une revue hal-01610019v1
	ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A Oihane Jaka , Margarita Azpitarte , Coro Paisan-Ruiz , Miren Zulaika , Leire Casas-Fraile Muscle & Nerve, 2014, 50 (3), pp.448-453. ⟨10.1002/mus.24263⟩ Article dans une revue hal-01610018v1
	EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS Marc Bartoli , Jean-Pierre Desvignes , Nicolas Lévy , Martin Krahn Muscle & Nerve, 2014, 50 (6), pp.1007-1010. ⟨10.1002/mus.24344⟩ Article dans une revue hal-01610020v1
	Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩ Article dans une revue hal-01610022v1
	The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5 Florence Le Roy , Laurence Suel , Jérôme Poupiot , Marc Bartoli , François Monjaret Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩ Article dans une revue hal-02336935v1
	Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy Natacha Broucqsault , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩ Article dans une revue hal-01662672v1
	Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. Nathalie Caruso , Balàzs Herberth , Marc Bartoli , Francesca Puppo , Julie Dumonceaux PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩ Article dans une revue hal-00862092v1
	A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Gaëlle Blandin , Sylvie Marchand , Karine Charton , Nathalie Danièle , Evelyne Gicquel Skeletal Muscle, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩ Article dans une revue inserm-00805816v1
	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 , Florence Le Roy , Laurence Suel , Jérôme Poupiot , Karine Charton Circulation, 2013, 128 (10), pp.1094-1104. ⟨10.1161/CIRCULATIONAHA.113.001340⟩ Article dans une revue hal-01610023v1
	UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene Gaëlle Blandin , Christophe Béroud , Veronique Labelle , Karine Nguyen , Nicolas Wein Human Mutation, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩ Article dans une revue hal-01610025v1
	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 Human Mutation, 2012, 33 (2), pp.429-439. ⟨10.1002/humu.21659⟩ Article dans une revue hal-01610024v1
	Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy William Lostal , Marc Bartoli , Carinne Roudaut , Nathalie Bourg , Martin Krahn PLoS ONE, 2012, 7 (5), ⟨10.1371/journal.pone.0038036⟩ Article dans une revue hal-01610028v1
	FURTHER HETEROGENEITY IN MYOPATHY WITH TUBULAR AGGREGATES? André Maues de Paula , Marc Bartoli , Sebastien Courrier , Jean Pouget , Nicolas Lévy Muscle & Nerve, 2012, 46 (6), pp.984-985. ⟨10.1002/mus.23509⟩ Article dans une revue hal-01610027v1
	Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes Marc Bartoli , P. Negre , N. Wein , Patrice Bourgeois , C. Pecheux Clinical Genetics, 2012, 81 (1), pp.99-101. ⟨10.1111/j.1399-0004.2011.01708.x⟩ Article dans une revue hal-01610026v1
	Translational Research and Therapeutic Perspectives in Dysferlinopathies Florian Barthelemy , Nicolas Wein , Martin Krahn , Nicolas Lévy , Marc Bartoli Molecular Medicine, 2011, 17 (9-10), pp.875-882. ⟨10.2119/molmed.2011.00084⟩ Article dans une revue hal-01610029v1
	Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? M. Krahn , M. Goicoechea , F. Hanisch , E. Groen , Marc Bartoli Clinical Genetics, 2011, 80 (4), pp.398-402. ⟨10.1111/j.1399-0004.2010.01620.x⟩ Article dans une revue hal-01610030v1
	Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping Nicolas Wein , Aurélie Avril , Marc Bartoli , Cyriaque Beley , Soraya Chaouch Human Mutation, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩ Article dans une revue hal-01610031v1
	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 Science Translational Medicine, 2010, 2 (50), ⟨10.1126/scitranslmed.3000951⟩ Article dans une revue hal-01610037v1
	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 , Nathalie Danièle , Laurence Suel , Sylvie Marchand , Sophie Aubert FEBS Journal, 2010, 277 (20), pp.4322-4337. ⟨10.1111/j.1742-4658.2010.07820.x⟩ Article dans une revue hal-01610035v1
	Immunolabelling and flow cytometry as new tools to explore dysferlinopathies C. Fossat , D. Depetris , F. Leturcq , P. Cau , Nicolas Lévy Neuromuscular Disorders, 2010, 20 (1), pp.57-60. ⟨10.1016/j.nmd.2009.08.004⟩ Article dans une revue hal-01610032v1
	Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer William Lostal , Marc Bartoli , Nathalie Bourg , Carinne Roudaut , Azéddine Bentaib Human Molecular Genetics, 2010, 19 (10), pp.1897-1907. ⟨10.1093/hmg/ddq065⟩ Article dans une revue hal-01610036v1
	Therapeutic exon `switching' for dysferlinopathies? Nicolas Lévy , Nicolas Wein , Florian Barthelemy , Vincent Mouly , Luis Garcia European Journal of Human Genetics, 2010, 18 (9), pp.969-970. ⟨10.1038/ejhg.2010.73⟩ Article dans une revue hal-01610034v1
	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 Genetic Testing and Molecular Biomarkers, 2010, 14 (1), pp.153-154. ⟨10.1089/gtmb.2009.0131⟩ Article dans une revue hal-01610033v1
	Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling Lydie Laure , Laurence Suel , Carinne Roudaut , Nathalie Bourg , Ahmed Ouali FEBS Journal, 2009, 276 (3), pp.669-684. ⟨10.1111/j.1742-4658.2008.06814.x⟩ Article dans une revue hal-01610040v1
	Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases Ronald L. Mellgren , Katsuya Miyake , Irina Kramerova , Melissa J. Spencer , Nathalie Bourg Biochimica et Biophysica Acta - Molecular Cell Research, 2009, 1793 (12), pp.1886-1893. ⟨10.1016/j.bbamcr.2009.09.013⟩ Article dans une revue hal-01610039v1
	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 , Stephen Baghdiguian , Alicia Lajmanovich , Marc Bartoli , Nathalie Daniele FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩ Article dans une revue hal-03674309v1
	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 , Stephen Baghdiguian , Alicia Lajmanovich , Marc Bartoli , Nathalie Danièle FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩ Article dans une revue hal-01610041v1
	Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Marc Bartoli , Evelyne Gicquel , Laetitia Barrault , Tayebeh Soheili , Marie Malissen Human Molecular Genetics, 2008, 17 (9), pp.1214-21. ⟨10.1093/hmg/ddn029⟩ Article dans une revue hal-00294192v1
	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 Molecular Therapy, 2007, 15 (1), pp.53-61. ⟨10.1038/sj.mt.6300022⟩ Article dans une revue hal-01610043v1
	Ins and outs of therapy in limb girdle muscular dystrophies Marc Bartoli , Nathalie Danièle , Isabelle Richard International Journal of Biochemistry and Cell Biology, 2007, 39 (9), pp.1608-1624. ⟨10.1016/j.biocel.2007.02.005⟩ Article dans une revue hal-01610044v1
	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 Gene Therapy, 2007, 14 (9), pp.733-740. ⟨10.1038/sj.gt.3302928⟩ Article dans une revue hal-01610042v1
	A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay Astrid Milic , Nathalie Danièle , Hanns Lochmueller , Marina Mora , Giacomo P. Comi Neuromuscular Disorders, 2007, 17 (2), pp.148-156. ⟨10.1016/j.nmd.2006.11.001⟩ Article dans une revue hal-01610045v1
	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
	Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies Marc Bartoli , J Poupiot , A Goyenvalle , N Perez , L Garcia Gene Therapy, 2006, 13 (1), pp.20-28. ⟨10.1038/sj.gt.3302594⟩ Article dans une revue hal-01610046v1
	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 Molecular Therapy, 2006, 13 (2), pp.250-259. ⟨10.1016/j.ymthe.2005.09.017⟩ Article dans une revue hal-01610047v1
	A mouse model for monitoring calpain activity under physiological and pathological conditions Marc Bartoli , Nathalie Bourg , Daniel Stockholm , Fabrice Raynaud , Antony Delevacque Journal of Biological Chemistry, 2006, 281 (51), pp.39672-39680. ⟨10.1074/jbc.M608803200⟩ Article dans une revue hal-01610049v1
	A Mouse Model for Monitoring Calpain Activity under Physiological and Pathological Conditions Marc Bartoli , Nathalie Bourg , Daniel Stockholm , F. Raynaud , Antony Delevacque Journal of Biological Chemistry, 2006, 281 (51), pp.39672-39680. ⟨10.1074/jbc.M608803200⟩ Article dans une revue hal-03674304v1
	Calpains in muscle wasting Marc Bartoli , I Richard International Journal of Biochemistry and Cell Biology, 2005, 37 (10), pp.2115-2133. ⟨10.1016/j.biocel.2004.12.012⟩ Article dans une revue hal-01610051v1
	Imaging calpain protease activity by multiphoton FRET in living mice D Stockholm , Marc Bartoli , G Sillon , N Bourg , J Davoust Journal of Molecular Biology, 2005, 346 (1), pp.215-222. ⟨10.1016/j.jmb.2004.11.039⟩ Article dans une revue hal-01610050v1
	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 Molecular and Cellular Biology, 2003, 23 (24), pp.9127-9135. ⟨10.1128/MCB.23.24.9127-9135.2003⟩ Article dans une revue hal-01610052v1
	Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1 S Gaillard , Marc Bartoli , F Castets , A Monneron FEBS Letters, 2001, 508 (1), pp.49-52. ⟨10.1016/S0014-5793(01)03020-4⟩ Article dans une revue hal-01610053v1

	Dysferlin Exon 32 Skipping in Patient Cells Florian Barthelemy , Sebastien Courrier , Nicolas Lévy , Martin Krahn , Marc Bartoli Exon Skipping and Inclusion Therapies, 1828, pp.489-496, 2018, ⟨10.1007/978-1-4939-8651-4_31⟩ Chapitre d'ouvrage hal-02000829v1

	Myocapture: a large-scale sequencing project to identify novel genes for myopathies Xavière Lornage , Raphaël Schneider , Chrystel Chéraud , Edoardo Malfatti , Vanessa Schartner Myologie 2019, Mar 2019, Bordeaux, France Poster de conférence hal-04029248v1
	LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families R. Ben Yaou , T. Stojkovic , Mathieu Cerino , F. Duval , R. Juntas-Morales 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩ Poster de conférence hal-03973478v1
	L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale. Karine Nguyen , Francesca Puppo , Natacha Broucqsault , Stéphane Roche , Charlene Chaix 9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. , 2018 Poster de conférence hal-01695264v1
	Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing Mathieu Cerino , Svetlana Gorokhova , P. Laforêt , R. Ben Yaou , Emmanuelle Salort-Campana 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩ Poster de conférence hal-03973434v1
	DIRECT AND EFFICIENT DERIVATION OF SKELETAL MUSCLE CELLS FROM HUMAN INDUCED PLURIPOTENT STEM CELLS Cherif Badja , Marie-Cécile Gaillard , Claire El-Yazidi , Marc Bartoli , Stéphane Roche International Society For Stem Cell Research - Annual Meeting, Jun 2015, Stockholm, Sweden. Poster de conférence hal-01676453v1
	DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy Marie-Cécile Gaillard , Camille Dion , Francesca Puppo , Marc Bartoli , Karine N'Guyen EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany Poster de conférence hal-01676426v1
	Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Salort-Campana 13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015 Poster de conférence hal-01688694v1

	Compte Rendu du Séminaire Pluridisciplinaire : Potentiel, Trajectoire Equilibre : approches et enrichissements pluridisciplinaires, 15 Février 2018, Université Paris Diderot 7, CIST Sandra Perez , Charlène Le Neindre , Marc Bartoli , José Halloy , Damienne Provitolo 2021 Autre publication scientifique hal-03317835v1

	First characterization of congenital myasthenic syndrome type 5 in North Africa Rochdi Khaoula , Mathieu Cerino , Nathalie da Silva , Valérie Delague , Halima Nahili 2024 Pré-publication, Document de travail hal-03662463v1

	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 9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France Communication dans un congrès hal-03986850v1
	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 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

Marc Bartoli

Publications

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation

Mechanisms of myostatin and activin A accumulation in chronic kidney disease

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder

Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Refining NGS diagnosis of muscular disorders

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

CRISP(R)ation musculaire

Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse model

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Clinical massively parallel sequencing for the diagnosis of myopathies

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

Restriction of Calpain3 Expression to the Skeletal Muscle Prevents Cardiac Toxicity and Corrects Pathology in a Murine Model of Limb-Girdle Muscular Dystrophy

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

FURTHER HETEROGENEITY IN MYOPATHY WITH TUBULAR AGGREGATES?

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Translational Research and Therapeutic Perspectives in Dysferlinopathies

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

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

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Therapeutic exon `switching' for dysferlinopathies?

Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling

Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases

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

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

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

Ins and outs of therapy in limb girdle muscular dystrophies

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay