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Journal Articles

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model

In Special Collection:

Neuroimmunology and Neurodegeneration

Maxence Cornille, Stéphanie Moriceau, Roman H. Khonsari, Yann Heuzé, Léa Loisay, Valérie Boitez, Anne Morice, Eric Arnaud, Corinne Collet, Morad Bensidhoum, Nabil Kaci, Nathalie Boddaert, Giovanna Paternoster, Theresa Rauschendorfer, Sabine Werner, Suzanne L. Mansour, Federico Di Rocco, Franck Oury, Laurence Legeai-Mallet

J Exp Med (2022) 219 (4): e20201879.

https://doi.org/10.1084/jem.20201879

Published: 07 March 2022

View article titled, FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model

Journal Articles

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschke, Christine Bole-Feysot, Laurence Legeai-Mallet, Annick Lim, Jean-Pierre de Villartay, Capucine Picard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile

J Exp Med (2012) 209 (13): 2323–2330.

https://doi.org/10.1084/jem.20121303

Published: 10 December 2012

View article titled, Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Includes: Supplementary data