Anne Rovelet-Lecrux

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 4

Top Topics

Knee Osteoarthritis

Molecular Dynamics Simulations

Intellectual Disability

Endoplasmic Reticulum

Top Venues

Acta neuropathologica communications

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

Publications

Juliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, Elise Brischoux-Boucher, Pascale Saugier-Veber, Alice Goldenberg, Francois Lecoquierre, Nathalie Drouot, Anne-Claire Richard, Gabriella Vera, Sophie Coutant, Olivier Quenez, Marion Rolain, Céline Bonnet, Myriam Bronner, Magalie Lecourtois, Gaël Nicolas
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. Human mutation 43 (9) (2022)
Gaël Nicolas, Myriam Sévigny, François Lecoquierre, Florent Marguet, Andréanne Deschênes, Maria Carment Del Pelaez, Sébastien Feuillette, Anaïs Audebrand, Magalie Lecourtois, Stéphane Rousseau, Anne-Claire Richard, Kévin Cassinari, Vincent Deramecourt, Charles Duyckaerts, Anne Boland, Jean-François Deleuze, Vincent Meyer, Jordi Clarimon Echavarria, Ellen Gelpi, Haruhiko Akiyama, Masato Hasegawa, Ito Kawakami, Tsz H Wong, Jeroen G J Van Rooij, John C Van Swieten, Dominique Campion, Paul A Dutchak, David Wallon, Flavie Lavoie-Cardinal, Annie Laquerrière, Anne Rovelet-Lecrux, Chantelle F Sephton
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics. Acta neuropathologica communications 10 (1) (2022)
Anne Rovelet-Lecrux, Sebastien Feuillette, Laetitia Miguel, Catherine Schramm, Ségolène Pernet, Olivier Quenez, Isabelle Ségalas-Milazzo, Laure Guilhaudis, Stéphane Rousseau, Gaëtan Riou, Thierry Frébourg, Dominique Campion, Gaël Nicolas, Magalie Lecourtois
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease. Acta neuropathologica communications 9 (1) (2021)
Quitterie Rochoux, Jana Sopkova-de Oliveira Santos, Christian Marcelli, Anne Rovelet-Lecrux, Virginie Chevallier, Jean-Jacques Dutheil, Sylvain Leclercq, Karim Boumédiene, Catherine Baugé, Juliette Aury-Landas
Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature. Biomolecules 11 (10) (2021)