Thomas Klopstock

27PUBLICATIONS
302CO-AUTHORS
Computational linguisticsGene mappingMedical infection agents (incl. prions)Major global burdens of diseaseGene and molecular therapy
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Publications (27)

|May 22, 2026
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

|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

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Jun 13, 2025
3D Quantification of Viral Transduction Efficiency in Living Human Retinal Organoids.

Teresa S Rogler, Katja A Salbaum, Achim T Brinkop

|Feb 18, 2025
Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.

Thomas Klopstock, Leopold H Zeng, Claudia Priglinger

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Frequent Collaborators

5 joint publications

Martin Hrabé de Angelis

4 joint publications

Helmut Fuchs

4 joint publications

Jan Rozman

4 joint publications

Claudia B Catarino