Rebecca Buchert

14PUBLICATIONS
229CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingNeurogeneticsDevelopmental genetics (incl. sex determination)Medical biochemistry - proteins and peptides (incl. medical proteomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (14)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

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

Wallid Deb, Thomas Besnard, Florence Desprez

|Aug 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Emily Banks, Vincent Francis, Sheng-Jia Lin

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Sep 08, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.

Muhammad Bilal, Hammal Khan, Muhammad Javed Khan

Pageof 3

Frequent Collaborators

6 joint publications

Tobias B Haack

4 joint publications

Henry Houlden

3 joint publications

Stephanie Efthymiou

3 joint publications

Aida M Bertoli-Avella