Anne Rovelet-Lecrux
4PUBLICATIONS
20CO-AUTHORS
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Publications (4)
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|Apr 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.Juliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari
|Feb 13, 2022
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.Gaël Nicolas, Myriam Sévigny, François Lecoquierre
|Dec 19, 2021
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.Anne Rovelet-Lecrux, Sebastien Feuillette, Laetitia Miguel
|Oct 23, 2021
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.Quitterie Rochoux, Jana Sopkova-de Oliveira Santos, Christian Marcelli
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Frequent Collaborators
3 joint publications
Gaël Nicolas
2 joint publications
Magalie Lecourtois
1 joint publications
Jana Sopkova-de Oliveira Santos
1 joint publications
Catherine Baugé
1 joint publications
Juliette Aury-Landas
1 joint publications
Sebastien Feuillette
1 joint publications
Laetitia Miguel
1 joint publications
Catherine Schramm
1 joint publications
Isabelle Ségalas-Milazzo
1 joint publications
Laure Guilhaudis
