Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Frédéric Ebstein

12PUBLICATIONS
193CO-AUTHORS
Immunogenetics (incl. genetic immunology)NeurogeneticsNeurology and neuromuscular diseasesInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (12)

Sort by Publication Date:
|May 22, 2026
Novel de novo dominant <i>PSMB10</i> variants in three patients with immune deficiency and liver disease.

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Frédéric Ebstein, Sébastien Küry, Victoria Most

|Mar 29, 2023
Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS.

Angelique Sanchez Dafun, Dušan Živković, Stephen Adonai Leon-Icaza

Pageof 2

Frequent Collaborators

8 joint publications

Elke Krüger

5 joint publications

Sébastien Küry

5 joint publications

Stéphane Bézieau

4 joint publications

Wallid Deb

4 joint publications

Frédéric Laumonnier

3 joint publications

Victoria Most

3 joint publications

Thomas Besnard

3 joint publications

Geeske van Woerden

3 joint publications

Julien Marcoux

3 joint publications

Marie-Pierre Bousquet

Frequent Collaborators

8 joint publications

Elke Krüger

5 joint publications

Sébastien Küry

5 joint publications

Stéphane Bézieau

4 joint publications

Wallid Deb