Claudia Dufke
5PUBLICATIONS
87CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|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
|Jun 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.Joohyun Park, Claudia Dufke, Zofia Fleszar
|Jun 07, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann
|Apr 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.Karla P Figueroa, Caspar Gross, Elena Buena-Atienza
|Nov 17, 2020
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.Marlous C M van der Weijden, Dayana Rodriguez-Contreras, Cathérine C S Delnooz
Pageof 1
Frequent Collaborators
4 joint publications
Tobias B Haack
4 joint publications
Marc Sturm
3 joint publications
Olaf Riess
3 joint publications
Caspar Gross
2 joint publications
Simone Zittel
2 joint publications
Thomas Klopstock
2 joint publications
Jakob Admard
2 joint publications
Stephan Ossowski
1 joint publications
Cathérine C S Delnooz
1 joint publications
Michelle L Kielhold
