Martje Pauly

14PUBLICATIONS
140CO-AUTHORS
Gene mappingEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (14)

|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 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|Jul 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Apr 28, 2023
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

Martje G Pauly, G Christoph Korenke, Sokhna Haissatou Diaw

|Feb 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.

Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou

|Feb 12, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer

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Frequent Collaborators

10 joint publications

Katja Lohmann

5 joint publications

Tobias Haack

5 joint publications

Marc Sturm

4 joint publications

Norbert Brüggemann