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29PUBLICATIONS
242CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesMolecular evolutionGeriatrics and gerontologyVision science
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Publications (29)

|May 27, 2026
Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.

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

|Mar 31, 2026
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Paul J Hop, Maarten Kooyman, Brendan J Kenna

|Feb 23, 2026
Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Koen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt

|Sep 30, 2025
Exosome Proteomics of SOD1<sup>D90A</sup> Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker.

Mukesh Gautam, Ali Laith, Aslihan Gunel

|Aug 20, 2025
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Cécile Di Folco, Charlotte Dubec-Fleury, Andreas Traschütz

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Frequent Collaborators

8 joint publications

Matthis Synofzik

7 joint publications

Henry Houlden

6 joint publications

Mamede deCarvalho

6 joint publications

Philip Van Damme