Translational Research and Therapeutic Perspectives in Dysferlinopathies

Por Barthélémy, Florian, Wein, Nicolas, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc
Publicado em 2011

Therapeutic exon ‘switching' for dysferlinopathies?

Por Lévy, Nicolas, Wein, Nicolas, Barthelemy, Florian, Mouly, Vincent, Garcia, Luis, Krahn, Martin, Bartoli, Marc
Publicado em 2010

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 no J Neuromuscul Dis (2015)

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

Por Barthélémy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Roll, Patrice, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisèle, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios E, Spilioti, Martha, Lemerrer, Martine, Wevers, Ron A, Morava, Eva, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Bartoli, Marc, De Sandre-Giovannoli, Annachiara
Publicado no Eur J Hum Genet (2015)

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Por Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Publicado no Am J Hum Genet (2015)