Editorial: Personalized medicine for neuromuscular disorders

por Bartoli, Marc, Bailey, Rachel M., Meyer, Kathrin, Barthélémy, Florian
Publicado 2023

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

por Barthélémy, Florian, Defour, Aurélia, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc
Publicado 2018

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

por Kergourlay, Virginie, Blandin, Gaëlle, Blanck, Véronique, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin
Publicado 2015

Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca(2+) Entry Units in Aged Muscle

por Salvi, Alexandra, Maues De Paula, André, Lévy, Nicolas, Attarian, Shahram, Bartoli, Marc
Publicado 2021

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

por Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David
Publicado 2018

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

por Gorokhov, Mark, Cerino, Mathieu, Mortreux, Jérémie, Riccardi, Florence, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Gorokhova, Svetlana
Publicado 2020

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

por Ballouhey, Océane, Courrier, Sébastien, Kergourlay, Virginie, Gorokhova, Svetlana, Cerino, Mathieu, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc
Publicado 2021

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

por Ballouhey, Océane, Chapoton, Marie, Alary, Benedicte, Courrier, Sébastien, Da Silva, Nathalie, Krahn, Martin, Lévy, Nicolas, Weisleder, Noah, Bartoli, Marc
Publicado 2023

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

por Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc
Publicado 2015

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

por Warnez‐Soulie, Julie, Macia, Michael, Lac, Sophie, Pecchi, Emilie, Bernard, Monique, Bendahan, David, Bartoli, Marc, Carrier, Alice, Giannesini, Benoît
Publicado 2019

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

por Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Le Goanvic, Brigitte, Blanck, Véronique, Salvi, Alexandra, Lévy, Nicolas, Krahn, Martin, Choumert, Ariane
Publicado 2020

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

por Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Kergourlay, Virginie, Salvo, Eric, Bernard, Rafaëlle, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin
Publicado 2015

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

por Blandin, Gaëlle, Marchand, Sylvie, Charton, Karine, Danièle, Nathalie, Gicquel, Evelyne, Boucheteil, Jean-Baptiste, Bentaib, Azéddine, Barrault, Laetitia, Stockholm, Daniel, Bartoli, Marc, Richard, Isabelle
Publicado 2013

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

por Cerino, Mathieu, Di Meglio, Chloé, Albertini, Francesca, Audic, Frédérique, Riccardi, Florence, Boulay, Christophe, Philip, Nicole, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin, Chabrol, Brigitte
Publicado 2020

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

por Martinez, Emmanuelle, Silvy, Françoise, Fina, Fréderic, Bartoli, Marc, Krahn, Martin, Barlesi, Fabrice, Figarella-Branger, Dominique, Iovanna, Juan, Laugier, René, Ouaissi, Mehdi, Lombardo, Dominique, Mas, Eric
Publicado 2015

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

por Abaji, Mario, Gorokhova, Svetlana, Da Silva, Nathalie, Busa, Tiffany, Grelet, Maude, Missirian, Chantal, Sigaudy, Sabine, Philip, Nicole, Leturcq, France, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc
Publicado 2022

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

por Barthélémy, Florian, Blouin, Cédric, Wein, Nicolas, Mouly, Vincent, Courrier, Sébastien, Dionnet, Eugénie, Kergourlay, Virginie, Mathieu, Yves, Garcia, Luis, Butler-Browne, Gillian, Lamaze, Christophe, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc
Publicado 2015

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

por Lostal, William, Bartoli, Marc, Roudaut, Carinne, Bourg, Nathalie, Krahn, Martin, Pryadkina, Marina, Borel, Perrine, Suel, Laurence, Roche, Joseph A., Stockholm, Daniel, Bloch, Robert J., Levy, Nicolas, Bashir, Rumaisa, Richard, Isabelle
Publicado 2012

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

por Caruso, Nathalie, Herberth, Balàzs, Bartoli, Marc, Puppo, Francesca, Dumonceaux, Julie, Zimmermann, Angela, Denadai, Simon, Lebossé, Marie, Roche, Stephane, Geng, Linda, Magdinier, Frederique, Attarian, Shahram, Bernard, Rafaelle, Maina, Flavio, Levy, Nicolas, Helmbacher, Françoise
Publicado 2013

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

por Dominov, Janice A., Uyan, Özgün, McKenna‐Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Kergourlay, Virginie, Bartoli, Marc, Levy, Nicolas, Hudson, Judith, Evangelista, Teresinha, Lochmuller, Hanns, Krahn, Martin, Rufibach, Laura, Hegde, Madhuri, Brown, Robert H.
Publicado 2019