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Anne Rovelet-Lecrux

4PUBLICATIONS

20CO-AUTHORS

Neurology and neuromuscular diseasesAutonomic nervous systemEpigenetics (incl. genome methylation and epigenomics)

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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 <i>COMP</i> Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on <i>COMP</i> 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

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

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