Marc Bartoli (M Bartoli)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 12

Top Topics

Duchenne Muscular Dystrophy

Dna Methylation

Endoplasmic Reticulum

Top Venues

Scientific reports

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific reports 14 (1) (2024)
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific reports 14 (1) (2024)
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific reports 14 (1) (2024)
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah L Weisleder, Marc Bartoli
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy. Biomedicines 11 (5) (2023)
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz-Jara, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Javier Acosta, J Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A Bevilacqua
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 13 (6) (2022)
Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossee
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 (15) (2022)
Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet, Chantal Missirian, Sabine Sigaudy, Nicole Philip, France Leturcq, Nicolas Lévy, Martin Krahn, Marc Bartoli
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49. Genes 13 (7) (2022)
Alexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, Jon Andoni Urtizberea, Moiz Bakhiet, Catherine Robert, Nicolas Lévy, Andre Megarbane, Valérie Delague, Marc Bartoli
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical genetics 100 (1) (2021)
Mark Gorokhov, Mathieu Cerino, Jérémie Mortreux, Florence Riccardi, Nicolas Lévy, Marc Bartoli, Martin Krahn, Svetlana Gorokhova
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific reports 10 (1) (2020)
Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. Molecular genetics & genomic medicine 8 (8) (2020)
Eugénie Dionnet, Aurelia Defour, Nathalie Da Silva, Alexandra Salvi, Nicolas Lévy, Martin Krahn, Marc Bartoli, Francesca Puppo, Svetlana Gorokhova
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human mutation 41 (10) (2020)
Mathieu Cerino, E Campana-Salort, A Salvi, Pascal Cintas, D Renard, R Juntas Morales, Céline Tard, F Leturcq, Kristl G Claeys, Nathalie Bonello-Palot, Svetlana Gorokhova, Jeremie Mortreux, A Maues De Paula, N Lévy, J Pouget, Mireille Cossee, Marc Bartoli, M Krahn, Shahram Attarian
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and applied neurobiology 46 (6) (2020)