Marc Bartoli

75 %
Libre accès
96
Documents
Affiliations actuelles
  • Marseille medical genetics - Centre de génétique médicale de Marseille (MMG)
  • Institut Marseille Maladies Rares (MarMaRa)
Identifiants chercheurs

Publications

Publications

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Zinc binding to a conserved cysteine motif in STIM1 promotes clustering and SOCE activation

Benedicte Alary , Viktoriia Baksheeva , Sabrina Beaumier , Géraldine Ferracci , Claude Villard et al.

Cell Communication and Signaling, 2025, ⟨10.1101/2025.06.12.659323⟩

Article dans une revue hal-05370244v1

Zinc binding to a conserved motif in STIM1 induces clustering and SOCE activation

Benedicte Alary , Viktoriia E. Baksheeva , Sabrina Beaumier , Géraldine Ferracci , Claude Villard et al.

Cell Communication and Signaling, 2025, 23 (1), ⟨10.1186/s12964-025-02499-z⟩

Article dans une revue hal-05467116v1
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System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

Ozan Ozisik , Svetlana Gorokhova , Mathieu Cerino , Marc Bartoli , Anaïs Baudot

Scientific Reports, 2024, 14 (1), pp.11225. ⟨10.1038/s41598-024-60761-9⟩

Article dans une revue hal-04728415v1
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Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation

Benedicte Alary , Pascal Cintas , Corentin Claude , Olivier Dellis , Corinne Thèze et al.

Clinical Immunology, 2024, 265, pp.110306. ⟨10.1016/j.clim.2024.110306⟩

Article dans une revue hal-04639441v1
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Knockdown of calpain1 in lumbar motoneurons reduces spasticity after spinal cord injury in adult rats

Marjorie Kerzonkuf , Jérémy Verneuil , Cécile Brocard , Nejada Dingu , Virginie Trouplin et al.

Molecular Therapy, 2024, ⟨10.1016/j.ymthe.2024.01.029⟩

Article dans une revue hal-04483886v1
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Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation

Stanislas Bataille , Nathalie Mckay , Laetitia Koppe , Alice Beau , Bérengère Benoit et al.

Nephrology Dialysis Transplantation, 2024, 39 (1), pp.103-113. ⟨10.1093/ndt/gfad123⟩

Article dans une revue hal-04254193v1

Optimizing diagnosis of neuromuscular diseases by high-through-put sequencing: Genetic characterization and classification of sequence variants

K. Rochdi , M. Cerino , N. da Silva , V. Delague , H. Nahili et al.

Clinica Chimica Acta, 2024, 558 (1), ⟨10.1016/j.cca.2024.118269⟩

Article dans une revue hal-04930457v1

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009–2019)

D. Adams , P. Cintas , G. Solé , C. Tard , C. Labeyrie et al.

Revue Neurologique, 2024, 180 (7), pp.661-672. ⟨10.1016/j.neurol.2024.02.393⟩

Article dans une revue hal-04683183v1
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A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Océane Ballouhey , Marie Chapoton , Benedicte Alary , Sebastien Courrier , Nathalie da Silva et al.

Biomedicines, 2023, 11 (5), pp.1438. ⟨10.3390/biomedicines11051438⟩

Article dans une revue hal-04190207v1
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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 et al.

International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩

Article dans une revue hal-03751530v1
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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 et al.

Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩

Article dans une revue hal-03678846v1
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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 et al.

Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac402⟩

Article dans une revue hal-04323648v1
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Mechanisms of myostatin and activin A accumulation in chronic kidney disease

Stanislas Bataille , Laetitia Dou , Marc Bartoli , Marion Sallée , Julien Aniort et al.

Nephrology Dialysis Transplantation, 2022, 37 (7), pp.1249-1260. ⟨10.1093/ndt/gfac136⟩

Article dans une revue hal-03670060v1
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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 et al.

Genes, 2022, 13 (7), ⟨10.3390/genes13071277⟩

Article dans une revue hal-03780226v1
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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 et al.

Neurobiology of Disease, 2022, 164, pp.105609. ⟨10.1016/j.nbd.2021.105609⟩

Article dans une revue hal-03520705v1
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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Mathieu Cerino , Patricio Gonzalez-Hormazabal , Mario Abaji , Sebastien Courrier , Francesca Puppo et al.

Genes, 2022, 13 (6), ⟨10.3390/genes13061076⟩

Article dans une revue hal-03780367v1
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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 et al.

Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac402⟩

Article dans une revue hal-03977684v1

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

Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu et al.

European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306

Article dans une revue hal-03678838v1
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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 et al.

Neurobiology of Disease, 2022, 164, pp.105609. ⟨10.1016/j.nbd.2021.105609⟩

Article dans une revue hal-04323628v1
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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 et al.

Genetics in Medicine, 2021, 23 (8), pp.1574 - 1577. ⟨10.1038/s41436-021-01164-3⟩

Article dans une revue hal-03667258v1
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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 et al.

Clinical Genetics, In press

Article dans une revue hal-03184458v2
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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
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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Océane Ballouhey , Sebastien Courrier , Virginie Kergourlay , Svetlana Gorokhova , Mathieu Cerino et al.

Frontiers in Cell and Developmental Biology, 2021, 9, ⟨10.3389/fcell.2021.754555⟩

Article dans une revue hal-03660761v1
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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 et al.

Genetics in Medicine, 2021, 23 (8), pp.1574-1577. ⟨10.1038/s41436-021-01164-3⟩

Article dans une revue hal-03547908v1
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Refining NGS diagnosis of muscular disorders

Mathieu Cerino , Emmanuelle Salort-Campana , Svetlana Gorokhova , Amandine Sevy , Nathalie Bonello-Palot et al.

Journal of Neurology, Neurosurgery and Psychiatry, 2020, jnnp-2018-319254. ⟨10.1136/jnnp-2018-319254⟩

Article dans une revue hal-02959292v1
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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 et al.

Human Mutation, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩

Article dans une revue hal-02959280v1
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Mathieu Cerino , Emmanuelle Salort-Campana , Alexandra Salvi , P Cintas , D. Renard et al.

Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩

Article dans une revue hal-02901906v1
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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Mark Gorokhov , Mathieu Cerino , Jeremie Mortreux , Florence Riccardi , Nicolas Lévy et al.

Scientific Reports, 2020, 10 (1), pp.6247. ⟨10.1038/s41598-020-63079-4⟩

Article dans une revue inserm-02749937v1
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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

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 et al.

Molecular Genetics & Genomic Medicine, 2020, 8 (8), ⟨10.1002/mgg3.1277⟩

Article dans une revue hal-03222418v1
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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 et al.

Physiological Reports, 2019, 7 (10), pp.e14055. ⟨10.14814/phy2.14055⟩

Article dans une revue hal-02075571v2
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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Janice Dominov , Özgün Uyan , Diane Mckenna‐yasek , Babi Ramesh Reddy Nallamilli , Virginie Kergourlay et al.

Annals of Clinical and Translational Neurology, 2019, 6 (4), pp.642-654. ⟨10.1002/acn3.738⟩

Article dans une revue hal-02346918v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard et al.

Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩

Article dans une revue hal-02406985v1
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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 et al.

Human Molecular Genetics, 2019, ⟨10.1093/hmg/ddz060⟩

Article dans une revue hal-02152040v1
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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
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VarAFT: a variant annotation and filtration system for human next generation sequencing data

Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen et al.

Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩

Article dans une revue hal-01852493v1
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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 et al.

Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩

Article dans une revue hal-04010378v2
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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 et al.

Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩

Article dans une revue hal-01741741v1
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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 et al.

Neurobiology of Disease, 2017, 99, ⟨10.1016/j.nbd.2016.12.009⟩

Article dans une revue hal-01426386v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix et al.

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 et al.

Neuromuscular Disorders, 2017, 27 (2), pp.S143-S144. ⟨10.1016/j.nmd.2017.06.185⟩

Article dans une revue hal-01764668v1

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

Amandine Sevy , Mathieu Cerino , Svetlana Gorokhova , Eugénie Dionnet , Yves Mathieu et al.

Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (3), pp.340-U116. ⟨10.1136/jnnp-2014-309663⟩

Article dans une revue hal-01469052v1

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 et al.

Journal of Genetics, 2016, 95 (1), pp.203-208

Article dans une revue hal-01469051v1
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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 et al.

BMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩

Article dans une revue hal-01378417v1
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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 et al.

Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩

Article dans une revue hal-01662841v1
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Florian Barthelemy , Claire L. Navarro , Racha Fayek , Nathalie da Silva , Patrice Roll et al.

European Journal of Human Genetics, 2015, 23 (8), pp.1051 - 1061. ⟨10.1038/ejhg.2014.239⟩

Article dans une revue hal-01597886v1
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Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Virginie Kergourlay , Gaëlle Blandin , Veronique Blanck , Nicolas Lévy , Marc Bartoli et al.

Annals of Clinical and Translational Neurology, 2015, 2 (7), pp.783-784. ⟨10.1002/acn3.216⟩

Article dans une revue hal-01610015v1
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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 , Karine Nguyen , Rafaelle Bernard , Elisabeth Jouve , Guilhem Solé et al.

Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩

Article dans une revue hal-01610016v1

Clinical massively parallel sequencing for the diagnosis of myopathies

Svetlana Gorokhova , Valerie Biancalana , Nicolas Lévy , Jocelyn Laporte , Marc Bartoli et al.

Revue Neurologique, 2015, 171 (6-7), pp.558-571. ⟨10.1016/j.neurol.2015.02.019⟩

Article dans une revue hal-01610014v1
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Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Florian Barthelemy , Cedric Blouin , Nicolas Wein , Vincent Mouly , Sebastien Courrier et al.

Journal of Neuromuscular Diseases, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩

Article dans une revue hal-01662831v1
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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Svetlana Gorokhova , Mathieu Cerino , Yves Mathieu , Sebastien Courrier , Jean-Pierre Desvignes et al.

Applied & Translational Genomics, 2015, 7, pp.26-31. ⟨10.1016/j.atg.2015.07.006⟩

Article dans une revue hal-01610017v1
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Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Emmanuelle Martinez , Françoise Silvy , Fréderic Fina , Marc Bartoli , Martin Krahn et al.

Oncotarget, 2015, 24 (6), pp.39855-39864. ⟨10.18632/oncotarget.5627⟩

Article dans une revue hal-01480288v1

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 et al.

Muscle & Nerve, 2014, 50 (3), pp.448-453. ⟨10.1002/mus.24263⟩

Article dans une revue istex hal-01610018v1
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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 et al.

Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩

Article dans une revue hal-01610019v1
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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
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Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Virginie Kergourlay , Ghadi Rai , Gaëlle Blandin , David Salgado , Christophe Béroud et al.

Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩

Article dans une revue hal-01610021v1
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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 , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents et al.

Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩

Article dans une revue hal-01662672v1

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 et al.

Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩

Article dans une revue hal-02336935v1
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian et al.

American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩

Article dans une revue hal-01610022v1
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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
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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 et al.

PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩

Article dans une revue hal-00862092v1

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 et al.

Circulation, 2013, 128 (10), pp.1094-1104. ⟨10.1161/CIRCULATIONAHA.113.001340⟩

Article dans une revue hal-01610023v1

FURTHER HETEROGENEITY IN MYOPATHY WITH TUBULAR AGGREGATES?

André Maues de Paula , Marc Bartoli , Sebastien Courrier , Jean Pouget , Nicolas Lévy et al.

Muscle & Nerve, 2012, 46 (6), pp.984-985. ⟨10.1002/mus.23509⟩

Article dans une revue istex hal-01610027v1
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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 , Christophe Béroud , Veronique Labelle , Karine Nguyen , Nicolas Wein et al.

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 et al.

Human Mutation, 2012, 33 (2), pp.429-439. ⟨10.1002/humu.21659⟩

Article dans une revue istex hal-01610024v1
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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 , Marc Bartoli , Carinne Roudaut , Nathalie Bourg , Martin Krahn et al.

PLoS ONE, 2012, 7 (5), ⟨10.1371/journal.pone.0038036⟩

Article dans une revue hal-01610028v1

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 et al.

Clinical Genetics, 2012, 81 (1), pp.99-101. ⟨10.1111/j.1399-0004.2011.01708.x⟩

Article dans une revue istex hal-01610026v1

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

M. Krahn , M. Goicoechea , F. Hanisch , E. Groen , Marc Bartoli et al.

Clinical Genetics, 2011, 80 (4), pp.398-402. ⟨10.1111/j.1399-0004.2010.01620.x⟩

Article dans une revue istex hal-01610030v1
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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

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

William Lostal , Marc Bartoli , Nathalie Bourg , Carinne Roudaut , Azéddine Bentaib et al.

Human Molecular Genetics, 2010, 19 (10), pp.1897-1907. ⟨10.1093/hmg/ddq065⟩

Article dans une revue istex hal-01610036v1
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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

Nicolas Wein , Aurélie Avril , Marc Bartoli , Cyriaque Beley , Soraya Chaouch et al.

Human Mutation, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩

Article dans une revue hal-01610031v1

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

C. Fossat , D. Depetris , F. Leturcq , P. Cau , Nicolas Lévy et al.

Neuromuscular Disorders, 2010, 20 (1), pp.57-60. ⟨10.1016/j.nmd.2009.08.004⟩

Article dans une revue hal-01610032v1

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 et al.

FEBS Journal, 2010, 277 (20), pp.4322-4337. ⟨10.1111/j.1742-4658.2010.07820.x⟩

Article dans une revue hal-01610035v1
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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⟩

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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

Genetic Testing and Molecular Biomarkers, 2010, 14 (1), pp.153-154. ⟨10.1089/gtmb.2009.0131⟩

Article dans une revue hal-01610033v1
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Therapeutic exon `switching' for dysferlinopathies?

Nicolas Lévy , Nicolas Wein , Florian Barthelemy , Vincent Mouly , Luis Garcia et al.

European Journal of Human Genetics, 2010, 18 (9), pp.969-970. ⟨10.1038/ejhg.2010.73⟩

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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 , Katsuya Miyake , Irina Kramerova , Melissa J. Spencer , Nathalie Bourg et al.

Biochimica et Biophysica Acta - Molecular Cell Research, 2009, 1793 (12), pp.1886-1893. ⟨10.1016/j.bbamcr.2009.09.013⟩

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

Lydie Laure , Laurence Suel , Carinne Roudaut , Nathalie Bourg , Ahmed Ouali et al.

FEBS Journal, 2009, 276 (3), pp.669-684. ⟨10.1111/j.1742-4658.2008.06814.x⟩

Article dans une revue hal-01610040v1

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

Marc Bartoli , Evelyne Gicquel , Laetitia Barrault , Tayebeh Soheili , Marie Malissen et al.

Human Molecular Genetics, 2008, 17 (9), pp.1214-21. ⟨10.1093/hmg/ddn029⟩

Article dans une revue istex hal-00294192v1

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 et al.

FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩

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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 , Stephen Baghdiguian , Alicia Lajmanovich , Marc Bartoli , Nathalie Danièle et al.

FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩

Article dans une revue hal-01610041v1

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⟩

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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 et al.

Neuromuscular Disorders, 2007, 17 (2), pp.148-156. ⟨10.1016/j.nmd.2006.11.001⟩

Article dans une revue istex hal-01610045v1
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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⟩

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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.

Gene Therapy, 2007, 14 (9), pp.733-740. ⟨10.1038/sj.gt.3302928⟩

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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⟩

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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.

Molecular Therapy, 2006, 13 (2), pp.250-259. ⟨10.1016/j.ymthe.2005.09.017⟩

Article dans une revue hal-01610047v1

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies

Marc Bartoli , J Poupiot , A Goyenvalle , N Perez , L Garcia et al.

Gene Therapy, 2006, 13 (1), pp.20-28. ⟨10.1038/sj.gt.3302594⟩

Article dans une revue hal-01610046v1
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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⟩

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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.

Journal of Biological Chemistry, 2006, 281 (51), pp.39672-39680. ⟨10.1074/jbc.M608803200⟩

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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 istex hal-01610051v1

Imaging calpain protease activity by multiphoton FRET in living mice

D Stockholm , Marc Bartoli , G Sillon , N Bourg , J Davoust et al.

Journal of Molecular Biology, 2005, 346 (1), pp.215-222. ⟨10.1016/j.jmb.2004.11.039⟩

Article dans une revue istex 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 et al.

Molecular and Cellular Biology, 2003, 23 (24), pp.9127-9135. ⟨10.1128/MCB.23.24.9127-9135.2003⟩

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Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1

Stéphane Gaillard , Marc Bartoli , Francis Castets , Ariane Monneron

FEBS Letters, 2001, 508 (1), pp.49-52. ⟨10.1016/S0014-5793(01)03020-4⟩

Article dans une revue istex hal-01610053v1