| Year |
Citation |
Score |
| 2024 |
Alary B, Cintas P, Claude C, Dellis O, Thèze C, Van Goethem C, Cossée M, Krahn M, Delague V, Bartoli M. Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation. Clinical Immunology (Orlando, Fla.). 265: 110306. PMID 38977117 DOI: 10.1016/j.clim.2024.110306 |
0.575 |
|
| 2024 |
Ozisik O, Gorokhova S, Cerino M, Bartoli M, Baudot A. System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific Reports. 14: 11225. PMID 38755190 DOI: 10.1038/s41598-024-60761-9 |
0.349 |
|
| 2023 |
Bartoli M, Bailey RM, Meyer K, Barthélémy F. Editorial: Personalized medicine for neuromuscular disorders. Frontiers in Cell and Developmental Biology. 11: 1329048. PMID 38033860 DOI: 10.3389/fcell.2023.1329048 |
0.564 |
|
| 2023 |
Ballouhey O, Chapoton M, Alary B, Courrier S, Da Silva N, Krahn M, Lévy N, Weisleder N, Bartoli M. A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy. Biomedicines. 11. PMID 37239109 DOI: 10.3390/biomedicines11051438 |
0.723 |
|
| 2022 |
El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, et al. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. Brain : a Journal of Neurology. PMID 36314052 DOI: 10.1093/brain/awac402 |
0.574 |
|
| 2022 |
Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, et al. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International Journal of Molecular Sciences. 23. PMID 35955641 DOI: 10.3390/ijms23158506 |
0.748 |
|
| 2022 |
Abaji M, Gorokhova S, Da Silva N, Busa T, Grelet M, Missirian C, Sigaudy S, Philip N, Leturcq F, Lévy N, Krahn M, Bartoli M. Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49. Genes. 13. PMID 35886062 DOI: 10.3390/genes13071277 |
0.749 |
|
| 2022 |
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, ... ... Bartoli M, et al. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes. 13. PMID 35741838 DOI: 10.3390/genes13061076 |
0.812 |
|
| 2022 |
Rochdi K, Cerino M, Da Silva N, Delague V, Bouzidi A, Nahili H, Zouiri G, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. Clinica Chimica Acta; International Journal of Clinical Chemistry. 524: 51-58. PMID 34852264 DOI: 10.1016/j.cca.2021.11.020 |
0.56 |
|
| 2021 |
Ballouhey O, Courrier S, Kergourlay V, Gorokhova S, Cerino M, Krahn M, Lévy N, Bartoli M. The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions. Frontiers in Cell and Developmental Biology. 9: 754555. PMID 34888307 DOI: 10.3389/fcell.2021.754555 |
0.793 |
|
| 2021 |
Khaoula R, Cerino M, Da Silva N, Delague V, Nahili H, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. First characterization of congenital myasthenic syndrome type 5 in North Africa. Molecular Biology Reports. PMID 34553317 DOI: 10.1007/s11033-021-06530-7 |
0.55 |
|
| 2021 |
Charnay T, Blanck V, Cerino M, Bartoli M, Riccardi F, Bonello-Palot N, Pécheux C, Nguyen K, Lévy N, Gorokhova S, Krahn M. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33927379 DOI: 10.1038/s41436-021-01164-3 |
0.698 |
|
| 2021 |
Salvi A, Maues De Paula A, Lévy N, Attarian S, Bartoli M. Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca Entry Units in Aged Muscle. Frontiers in Physiology. 12: 663677. PMID 33868028 DOI: 10.3389/fphys.2021.663677 |
0.549 |
|
| 2021 |
Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical Genetics. PMID 33733462 DOI: 10.1111/cge.13959 |
0.68 |
|
| 2020 |
Cerino M, Bartoli M, Riccardi F, Le Goanvic B, Blanck V, Salvi A, Lévy N, Krahn M, Choumert A. Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Annals of Clinical and Translational Neurology. PMID 33107701 DOI: 10.1002/acn3.51193 |
0.66 |
|
| 2020 |
Cerino M, Salort-Campana E, Gorokhova S, Sevy A, Bonello-Palot N, Levy N, Attarian S, Bartoli M, Krahn M. Refining NGS diagnosis of muscular disorders. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 32934002 DOI: 10.1136/Jnnp-2018-319254 |
0.749 |
|
| 2020 |
Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation. PMID 32668095 DOI: 10.1002/Humu.24083 |
0.8 |
|
| 2020 |
Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. Molecular Genetics & Genomic Medicine. e1277. PMID 32537934 DOI: 10.1002/Mgg3.1277 |
0.715 |
|
| 2020 |
Ballouhey O, Bartoli M, Levy N. [CRISPR-Cas9 for muscle dystrophies]. Medecine Sciences : M/S. 36: 358-366. PMID 32356712 DOI: 10.1051/Medsci/2020081 |
0.674 |
|
| 2020 |
Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Morales RJ, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, De Paula AM, Lévy N, Pouget J, ... ... Bartoli M, et al. Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and Applied Neurobiology. PMID 32342993 DOI: 10.1111/Nan.12624 |
0.727 |
|
| 2020 |
Gorokhov M, Cerino M, Mortreux J, Riccardi F, Lévy N, Bartoli M, Krahn M, Gorokhova S. A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific Reports. 10: 6247. PMID 32277129 DOI: 10.1038/S41598-020-63079-4 |
0.707 |
|
| 2019 |
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, et al. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurology. Genetics. 5: e372. PMID 31872053 DOI: 10.1212/Nxg.0000000000000372 |
0.526 |
|
| 2019 |
Warnez-Soulie J, Macia M, Lac S, Pecchi E, Bernard M, Bendahan D, Bartoli M, Carrier A, Giannesini B. Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo. Physiological Reports. 7: e14055. PMID 31124296 DOI: 10.14814/Phy2.14055 |
0.312 |
|
| 2019 |
El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. Human Molecular Genetics. PMID 31090908 DOI: 10.1093/Hmg/Ddz060 |
0.657 |
|
| 2019 |
Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654. PMID 31019989 DOI: 10.1002/Acn3.738 |
0.816 |
|
| 2019 |
Yaou RB, Stojkovic T, Cerino M, Duval F, Juntas-Morales R, Nelson I, Beuvin M, Lacene E, Sternberg D, Nectoux J, Martin-Negrier M, Bartoli M, Cossee M, Leturcq F, Sole G, et al. P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.366 |
0.489 |
|
| 2018 |
Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M. Dysferlin Exon 32 Skipping in Patient Cells. Methods in Molecular Biology (Clifton, N.J.). 1828: 489-496. PMID 30171562 DOI: 10.1007/978-1-4939-8651-4_31 |
0.817 |
|
| 2018 |
Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, Salgado D. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Research. PMID 29860484 DOI: 10.1093/Nar/Gky471 |
0.608 |
|
| 2018 |
Barthélémy F, Defour A, Lévy N, Krahn M, Bartoli M. Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet. Journal of Neuromuscular Diseases. 5: 21-28. PMID 29480214 DOI: 10.3233/Jnd-170251 |
0.803 |
|
| 2017 |
Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, ... ... Bartoli M, et al. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurology. Genetics. 3: e208. PMID 29264399 DOI: 10.1212/Nxg.0000000000000208 |
0.607 |
|
| 2017 |
Nguyen K, Puppo F, Roche S, Gaillard MC, Chaix C, Lagarde A, Pierret M, Vovan C, Olschwang S, Salort-Campana E, Attarian S, Bartoli M, Bernard R, Magdinier F, Levy N. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral Dystrophy. Human Mutation. PMID 28744936 DOI: 10.1002/Humu.23304 |
0.733 |
|
| 2017 |
Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M, et al. Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing. Muscle & Nerve. PMID 28256728 DOI: 10.1002/Mus.25638 |
0.739 |
|
| 2017 |
Böhm J, Schneider R, Malfatti E, Schartner V, Lornage X, Nelson I, Bonne G, Eymard B, Nectoux J, Leturcq F, Bartoli M, Krahn M, Saker S, Richard I, Boland A, et al. P.327 - Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.367 |
0.631 |
|
| 2017 |
Cerino M, Gorokhova S, Laforêt P, Yaou RB, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze J, Boland A, Behin A, Stojkovic T, Bonne G, Lévy N, Bartoli M, et al. P.175 - Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.205 |
0.738 |
|
| 2017 |
Warnez-Soulie J, Giannesini B, Henri S, Richard I, Malissen B, Krahn M, Bartoli M. P.155 - Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse model Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.185 |
0.661 |
|
| 2016 |
Matagne V, Ehinger Y, Saidi L, Borges-Correia A, Barkats M, Bartoli M, Villard L, Roux JC. A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome. Neurobiology of Disease. 99: 1-11. PMID 27974239 DOI: 10.1016/J.Nbd.2016.12.009 |
0.336 |
|
| 2016 |
Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, ... ... Bartoli M, et al. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Bmc Medical Genetics. 17: 66. PMID 27634379 DOI: 10.1186/S12881-016-0328-9 |
0.751 |
|
| 2016 |
Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M. Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton. Journal of Genetics. 95: 203-8. PMID 27019452 DOI: 10.1007/S12041-016-0619-0 |
0.711 |
|
| 2016 |
Bevilacqua J, Mathieu Y, Krahn M, Bartoli M, Castiglioni C, Kleinsteuber K, Díaz J, Puppo F, Cerino M, Courrier S, Gorokhova S, Miranda N, Trangulao A, González-Hormazábal P, Avaria M, et al. Calpainopathy in Chile, first cases reported Neuromuscular Disorders. 26: S91. DOI: 10.1016/J.Nmd.2016.06.023 |
0.743 |
|
| 2016 |
LACOSTE C, DESVIGNES JP, SALGADO D, PECHEUX C, VILLARD L, BARTOLI M, BEROUD C, LEVY N, BADENS C, KRAHN M. Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Journal of Genetics. 1-6. DOI: 10.1007/s12041-016-0619-0 |
0.491 |
|
| 2015 |
Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M. Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290. PMID 27858744 DOI: 10.3233/Jnd-150109 |
0.768 |
|
| 2015 |
Cerino M, Gorokhova S, Béhin A, Urtizberea JA, Kergourlay V, Salvo E, Bernard R, Lévy N, Bartoli M, Krahn M. Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. Journal of Neuromuscular Diseases. 2: 131-136. PMID 27858732 DOI: 10.3233/Jnd-150074 |
0.806 |
|
| 2015 |
Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders. Applied & Translational Genomics. 7: 26-31. PMID 27054082 DOI: 10.1016/J.Atg.2015.07.006 |
0.805 |
|
| 2015 |
Martinez E, Silvy F, Fina F, Bartoli M, Krahn M, Barlesi F, Figarella-Branger D, Iovanna J, Laugier R, Ouaissi M, Lombardo D, Mas E. Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers. Oncotarget. PMID 26498142 DOI: 10.18632/Oncotarget.5627 |
0.538 |
|
| 2015 |
Kergourlay V, Blandin G, Blanck V, Lévy N, Bartoli M, Krahn M. Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides. Annals of Clinical and Translational Neurology. 2: 783-4. PMID 26273692 DOI: 10.1002/Acn3.216 |
0.815 |
|
| 2015 |
Gorokhova S, Biancalana V, Lévy N, Laporte J, Bartoli M, Krahn M. Clinical massively parallel sequencing for the diagnosis of myopathies. Revue Neurologique. 171: 558-71. PMID 26022190 DOI: 10.1016/J.Neurol.2015.02.019 |
0.724 |
|
| 2015 |
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, et al. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 25783436 DOI: 10.1136/Jnnp-2014-309663 |
0.779 |
|
| 2015 |
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, ... ... Bartoli M, et al. Truncated prelamin A expression in HGPS-like patients: a transcriptional study. European Journal of Human Genetics : Ejhg. 23: 1051-61. PMID 25649378 DOI: 10.1038/Ejhg.2014.239 |
0.781 |
|
| 2015 |
Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Bertaux K, Bernard R, Attarian S, Goto K, Nishino I, Hayashi Y, Magdinier F, Krahn M, Helmbacher F, ... Bartoli M, et al. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation. 36: 443-53. PMID 25615407 DOI: 10.1002/Humu.22760 |
0.797 |
|
| 2015 |
Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, ... ... Bartoli M, et al. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. Orphanet Journal of Rare Diseases. 10: 2. PMID 25603992 DOI: 10.1186/S13023-014-0218-1 |
0.641 |
|
| 2015 |
Dionnet E, Tsvetkov P, Gorokhova S, Maues de Paula A, Devred F, Krahn M, Bartoli M. Mutations in the EF hands of STIM1 lead to different clinical severity Neuromuscular Disorders. 25: S289. DOI: 10.1016/J.Nmd.2015.06.368 |
0.791 |
|
| 2015 |
Sevy A, Salort Camapana E, Gorokhova S, Attarian S, Bartoli M, Krahn M, Pouget J. Apport du séquençage à haut débit d’un panel de gènes dans le diagnostic des myopathies distales Revue Neurologique. 171: A162. DOI: 10.1016/J.Neurol.2015.01.372 |
0.514 |
|
| 2015 |
Cerino M, Gorokhova S, Béhin A, Urtizberea JA, Lévy N, Bartoli M, Krahn M. Analyse évolutive d’une cohorte de patients atteints de myopathie héréditaire à inclusions : de l’approche « gène par gène » à l’approche « exome » Revue Neurologique. 171: A150-A151. DOI: 10.1016/J.Neurol.2015.01.331 |
0.69 |
|
| 2015 |
Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders Applied and Translational Genomics. 7: 26-31. DOI: 10.1016/j.atg.2015.07.006 |
0.473 |
|
| 2014 |
Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Identification of splicing defects caused by mutations in the dysferlin gene. Human Mutation. 35: 1532-41. PMID 25312915 DOI: 10.1002/Humu.22710 |
0.802 |
|
| 2014 |
Bartoli M, Desvignes JP, Nicolas L, Martin K. Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. Muscle & Nerve. 50: 1007-10. PMID 25046369 DOI: 10.1002/Mus.24344 |
0.445 |
|
| 2014 |
Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, et al. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology. 83: 733-42. PMID 25031281 DOI: 10.1212/Wnl.0000000000000708 |
0.696 |
|
| 2014 |
Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A. Muscle & Nerve. 50: 448-53. PMID 24715573 DOI: 10.1002/Mus.24263 |
0.763 |
|
| 2014 |
Puppo F, Sebbagh M, Helmbacher F, Levy N, Krahn M, Bartoli M. G.P.14 Neuromuscular Disorders. 24: 798. DOI: 10.1016/J.Nmd.2014.06.028 |
0.722 |
|
| 2014 |
Puppo F, Dionnet E, Gaildrat P, Castro C, Bernard R, Salort-Campana E, Shahram A, Nishino I, Krahn M, Helmbacher F, Levy N, Bartoli M. G.P.12 Neuromuscular Disorders. 24: 797-798. DOI: 10.1016/J.Nmd.2014.06.026 |
0.795 |
|
| 2014 |
Simon J, Barthelemy F, Puppo F, Courrier S, Bartoli M, Krahn M. Cavéoline 3 et lamines A/C : une même voie physiologique ? Revue Neurologique. 170: A42. DOI: 10.1016/J.Neurol.2014.01.163 |
0.735 |
|
| 2013 |
Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I. Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation. 128: 1094-104. PMID 23908349 DOI: 10.1161/Circulationaha.113.001340 |
0.531 |
|
| 2013 |
Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, et al. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. Plos Genetics. 9: e1003550. PMID 23785297 DOI: 10.1371/Journal.Pgen.1003550 |
0.724 |
|
| 2013 |
Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, et al. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Human Molecular Genetics. 22: 4206-14. PMID 23777630 DOI: 10.1093/Hmg/Ddt272 |
0.657 |
|
| 2013 |
Blandin G, Marchand S, Charton K, Danièle N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skeletal Muscle. 3: 3. PMID 23414517 DOI: 10.1186/2044-5040-3-3 |
0.548 |
|
| 2013 |
Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, ... ... Bartoli M, et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. American Journal of Human Genetics. 92: 271-8. PMID 23332920 DOI: 10.1016/J.Ajhg.2012.12.007 |
0.712 |
|
| 2013 |
Gelfand EW, Simon D, Simon HU, Thomas A, Busse WW, Nair P, Gauvreau GM, Denburg JA, Bivins-Smith ER, Jacoby DB, Davis BP, Rothenberg ME, Khoury P, Klion AD, Lotfi R, ... ... Bartoli M, et al. Eosinophils in Human Disease Eosinophils in Health and Disease. 431-536. DOI: 10.1016/B978-0-12-394385-9.00013-4 |
0.417 |
|
| 2012 |
De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, Attarian S. Further heterogeneity in myopathy with tubular aggregates? Muscle & Nerve. 46: 984-5. PMID 23225398 DOI: 10.1002/Mus.23509 |
0.753 |
|
| 2012 |
Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, Borel P, Suel L, Roche JA, Stockholm D, Bloch RJ, Levy N, Bashir R, Richard I. Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. Plos One. 7: e38036. PMID 22666441 DOI: 10.1371/Journal.Pone.0038036 |
0.766 |
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| 2012 |
Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Human Mutation. 33: E2317-31. PMID 22213072 DOI: 10.1002/Humu.22015 |
0.766 |
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| 2012 |
Bartoli M, Nègre P, Wein N, Bourgeois P, Pécheux C, Lévy N, Krahn M. Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes. Clinical Genetics. 81: 99-101. PMID 22150418 DOI: 10.1111/J.1399-0004.2011.01708.X |
0.677 |
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| 2012 |
Soheili T, Gicquel E, Poupiot J, N'Guyen L, Le Roy F, Bartoli M, Richard I. Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. Human Mutation. 33: 429-39. PMID 22095924 DOI: 10.1002/Humu.21659 |
0.6 |
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| 2012 |
Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Stockholm D, Bartoli M, Richard I. G.O.3 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies Neuromuscular Disorders. 22: 873. DOI: 10.1016/J.Nmd.2012.06.234 |
0.559 |
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| 2012 |
Barthélémy F, Kergourlay V, Lévy N, Krahn M, Bartoli M. T.P.27 Characterization of the modular domains of dysferlin for gene transfer Neuromuscular Disorders. 22: 860-861. DOI: 10.1016/J.Nmd.2012.06.192 |
0.773 |
|
| 2011 |
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Translational research and therapeutic perspectives in dysferlinopathies. Molecular Medicine (Cambridge, Mass.). 17: 875-82. PMID 21556485 DOI: 10.2119/Molmed.2011.00084 |
0.824 |
|
| 2011 |
Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, et al. Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? Clinical Genetics. 80: 398-402. PMID 21204801 DOI: 10.1111/J.1399-0004.2010.01620.X |
0.709 |
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| 2010 |
Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, et al. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Science Translational Medicine. 2: 50ra69. PMID 20861509 DOI: 10.1126/Scitranslmed.3000951 |
0.791 |
|
| 2010 |
Laure L, Danièle N, Suel L, Marchand S, Aubert S, Bourg N, Roudaut C, Duguez S, Bartoli M, Richard I. 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. The Febs Journal. 277: 4322-37. PMID 20860623 DOI: 10.1111/J.1742-4658.2010.07820.X |
0.507 |
|
| 2010 |
Lévy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M. Therapeutic exon 'switching' for dysferlinopathies? European Journal of Human Genetics : Ejhg. 18: 969-70; author reply. PMID 20512160 DOI: 10.1038/Ejhg.2010.73 |
0.771 |
|
| 2010 |
Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Human Molecular Genetics. 19: 1897-907. PMID 20154340 DOI: 10.1093/Hmg/Ddq065 |
0.556 |
|
| 2010 |
Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforêt P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Lévy N. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Human Mutation. 31: 136-42. PMID 19953532 DOI: 10.1002/Humu.21160 |
0.78 |
|
| 2010 |
Krahn M, Labelle V, Borges A, Bartoli M, Lévy N. Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. Genetic Testing and Molecular Biomarkers. 14: 153-4. PMID 19929428 DOI: 10.1089/Gtmb.2009.0131 |
0.742 |
|
| 2010 |
Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N. Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. Neuromuscular Disorders : Nmd. 20: 57-60. PMID 19854055 DOI: 10.1016/J.Nmd.2009.08.004 |
0.712 |
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| 2010 |
Wein N, Avril A, Krahn M, Navarro C, Barthelemy F, Courrier S, Leturcq F, Garcia L, Bartoli M, Lévy N. O.17 Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping Neuromuscular Disorders. 20: 640. DOI: 10.1016/J.Nmd.2010.07.141 |
0.797 |
|
| 2010 |
Cossée M, Bartoli M, Allamand V, Guittard C, Delague V, Krahn M, Ledeuil C, Marey I, Nelson I, Richard P, Bourgeois P, Bonne G, Leturcq F, Voit T, Béroud C, et al. P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders Neuromuscular Disorders. 20: 604-604. DOI: 10.1016/J.Nmd.2010.07.030 |
0.678 |
|
| 2009 |
Mellgren RL, Miyake K, Kramerova I, Spencer MJ, Bourg N, Bartoli M, Richard I, Greer PA, McNeil PL. Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases. Biochimica Et Biophysica Acta. 1793: 1886-93. PMID 19781581 DOI: 10.1016/J.Bbamcr.2009.09.013 |
0.473 |
|
| 2009 |
Laure L, Suel L, Roudaut C, Bourg N, Ouali A, Bartoli M, Richard I, Danièle N. Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. The Febs Journal. 276: 669-84. PMID 19143834 DOI: 10.1111/J.1742-4658.2008.06814.X |
0.537 |
|
| 2009 |
Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaib A, Guerchet N, Fougerousse F, McNeil P, Richard I. T.O.2 Efficient recovery of dysferlin deficiency by dual adeno associated vector mediated gene transfer Neuromuscular Disorders. 19: 659. DOI: 10.1016/J.Nmd.2009.06.357 |
0.472 |
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| 2009 |
Krahn M, Wein N, Borges A, Bourgeois P, Labelle V, Negre P, Pecheux C, Bartoli M, Lévy N. G.P.6.06 Systematic screening for genomic deletions and duplications in the dysferlin gene using multiplex ligation-dependant probe amplification and CGH microarrays Neuromuscular Disorders. 19: 585-586. DOI: 10.1016/J.Nmd.2009.06.135 |
0.695 |
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| 2008 |
Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Vincent-Lacaze N, Perez N, Udd B, Danos O, Richard I. Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Human Molecular Genetics. 17: 1214-21. PMID 18252745 DOI: 10.1093/Hmg/Ddn029 |
0.585 |
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| 2008 |
Benayoun B, Baghdiguian S, Lajmanovich A, Bartoli M, Daniele N, Gicquel E, Bourg N, Raynaud F, Pasquier MA, Suel L, Lochmuller H, Lefranc G, Richard I. NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 22: 1521-9. PMID 18073330 DOI: 10.1096/Fj.07-8701Com |
0.523 |
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| 2008 |
Krahn M, Lévy N, Danièle N, Richard I, Bartoli M. Novel therapeutic strategies for muscular dystrophies | Nouvelles stratégies thérapeutiques des dystrophies musculaires Revue Du Rhumatisme (Edition Francaise). 75: 181-186. DOI: 10.1016/J.Rhum.2007.12.001 |
0.738 |
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| 2008 |
Campana-Salort E, Krahn M, Bartoli M, Richard I, Pouget J, Levy N. Limb girdle muscular dystrophies: Diagnosis strategy, molecular bases | Dystrophies musculaires des ceintures : stratégie diagnostique, bases moléculaires Revue Du Rhumatisme (Edition Francaise). 75: 142-150. DOI: 10.1016/J.Rhum.2007.10.617 |
0.733 |
|
| 2008 |
Richard I, Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Udd B, Danos O. G.P.8.12 Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation Neuromuscular Disorders. 18: 785. DOI: 10.1016/J.Nmd.2008.06.211 |
0.509 |
|
| 2008 |
Krahn M, Wein N, Lostal W, Bourg-Alibert N, Nguyen K, Courrier S, Vial C, Labelle V, Petris DD, Borges A, Mattei M, Roudaut C, Miyake K, McNeil P, Cau P, ... ... Bartoli M, et al. G.O.5 Partial functionality of a Mini-dysferlin molecule identified in a patient affected with moderately severe primary dysferlinopathy Neuromuscular Disorders. 18: 781. DOI: 10.1016/J.Nmd.2008.06.198 |
0.729 |
|
| 2007 |
Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 53-61. PMID 28182933 DOI: 10.1038/Sj.Mt.6300022 |
0.516 |
|
| 2007 |
Danièle N, Richard I, Bartoli M. Ins and outs of therapy in limb girdle muscular dystrophies. The International Journal of Biochemistry & Cell Biology. 39: 1608-24. PMID 17339125 DOI: 10.1016/J.Biocel.2007.02.005 |
0.571 |
|
| 2007 |
Bartoli M, Poupiot J, Vulin A, Fougerousse F, Arandel L, Daniele N, Roudaut C, Noulet F, Garcia L, Danos O, Richard I. AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency. Gene Therapy. 14: 733-40. PMID 17330087 DOI: 10.1038/Sj.Gt.3302928 |
0.57 |
|
| 2007 |
Milic A, Daniele N, Lochmüller H, Mora M, Comi GP, Moggio M, Noulet F, Walter MC, Morandi L, Poupiot J, Roudaut C, Bittner RE, Bartoli M, Richard I. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscular Disorders : Nmd. 17: 148-56. PMID 17236769 DOI: 10.1016/J.Nmd.2006.11.001 |
0.558 |
|
| 2007 |
Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 53-61. PMID 17164775 DOI: 10.1038/sj.mt.6300022 |
0.439 |
|
| 2007 |
Krahn M, Wein N, Nguyen K, Vial C, Courrier S, Lostal W, Bartoli M, Labelle V, Leturcq F, Cau P, Richard I, Levy N. G.P.4.10 Functional evaluation of a putative mini-dysferlin identified in a patient with moderate Miyoshi myopathy phenotype Neuromuscular Disorders. 17: 790. DOI: 10.1016/J.Nmd.2007.06.102 |
0.748 |
|
| 2006 |
Bartoli M, Bourg N, Stockholm D, Raynaud F, Delevacque A, Han Y, Borel P, Seddik K, Armande N, Richard I. A mouse model for monitoring calpain activity under physiological and pathological conditions. The Journal of Biological Chemistry. 281: 39672-80. PMID 17056592 DOI: 10.1074/Jbc.M608803200 |
0.475 |
|
| 2006 |
Duguez S, Bartoli M, Richard I. Calpain 3: a key regulator of the sarcomere? The Febs Journal. 273: 3427-36. PMID 16884488 DOI: 10.1111/J.1742-4658.2006.05351.X |
0.554 |
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| 2006 |
Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Molecular Therapy : the Journal of the American Society of Gene Therapy. 13: 250-9. PMID 16290124 DOI: 10.1016/J.Ymthe.2005.09.017 |
0.543 |
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| 2006 |
Bartoli M, Poupiot J, Goyenvalle A, Perez N, Garcia L, Danos O, Richard I. Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies. Gene Therapy. 13: 20-8. PMID 16107863 DOI: 10.1038/Sj.Gt.3302594 |
0.577 |
|
| 2006 |
Bartoli M, Poupiot J, Fougerousse F, Arandel L, Daniele N, Noulet F, Vulin A, Garcia L, Danos O, Richard I. T.P.1 07 Therapeutic benefit of AAV-mediated injection of a mutated propeptide of myostatin in calpain 3 deficient mice Neuromuscular Disorders. 16: 686. DOI: 10.1016/J.Nmd.2006.05.143 |
0.514 |
|
| 2005 |
Bartoli M, Richard I. Calpains in muscle wasting. The International Journal of Biochemistry & Cell Biology. 37: 2115-33. PMID 16125114 DOI: 10.1016/J.Biocel.2004.12.012 |
0.541 |
|
| 2005 |
Stockholm D, Bartoli M, Sillon G, Bourg N, Davoust J, Richard I. Imaging calpain protease activity by multiphoton FRET in living mice. Journal of Molecular Biology. 346: 215-22. PMID 15663939 DOI: 10.1016/J.Jmb.2004.11.039 |
0.469 |
|
| 2003 |
Taveau M, Bourg N, Sillon G, Roudaut C, Bartoli M, Richard I. Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components. Molecular and Cellular Biology. 23: 9127-35. PMID 14645524 DOI: 10.1128/Mcb.23.24.9127-9135.2003 |
0.525 |
|
| 2001 |
Gaillard S, Bartoli M, Castets F, Monneron A. Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1. Febs Letters. 508: 49-52. PMID 11707266 DOI: 10.1016/S0014-5793(01)03020-4 |
0.657 |
|
| 2001 |
Bartoli M, Ramarao MK, Cohen JB. Interactions of the rapsyn RING-H2 domain with dystroglycan. The Journal of Biological Chemistry. 276: 24911-7. PMID 11342559 DOI: 10.1074/Jbc.M103258200 |
0.413 |
|
| 1999 |
Bartoli M, Ternaux JP, Forni C, Portalier P, Salin P, Amalric M, Monneron A. Down-regulation of striatin, a neuronal calmodulin-binding protein, impairs rat locomotor activity. Journal of Neurobiology. 40: 234-43. PMID 10413453 DOI: 10.1002/(Sici)1097-4695(199908)40:2<234::Aid-Neu9>3.0.Co;2-T |
0.643 |
|
| 1998 |
Bartoli M, Monneron A, Ladant D. Interaction of calmodulin with striatin, a WD-repeat protein present in neuronal dendritic spines. The Journal of Biological Chemistry. 273: 22248-53. PMID 9712839 DOI: 10.1074/Jbc.273.35.22248 |
0.651 |
|
| 1998 |
Moqrich A, Mattei MG, Bartoli M, Rakitina T, Baillat G, Monneron A, Castets F. Cloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain. Genomics. 51: 136-9. PMID 9693043 DOI: 10.1006/Geno.1998.5342 |
0.779 |
|
| 1996 |
Castets F, Bartoli M, Barnier JV, Baillat G, Salin P, Moqrich A, Bourgeois JP, Denizot F, Rougon G, Calothy G, Monneron A. A novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neurons. The Journal of Cell Biology. 134: 1051-62. PMID 8769426 DOI: 10.1083/Jcb.134.4.1051 |
0.773 |
|
| 1995 |
Bartoli M, Castets F, Barnier JV, Baillat G, Monneron A. Cloning and characterization of a new member of transducing proteins Biology of the Cell. 84: 102-102. DOI: 10.1016/0248-4900(96)81395-5 |
0.648 |
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