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Marc Sturm

22PUBLICATIONS

328CO-AUTHORS

Neurology and neuromuscular diseasesGene mappingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Molecular evolution

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Publications (22)

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|Mar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|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 24, 2025

Author Correction: 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

|Jun 19, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|Jun 13, 2025

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Joohyun Park, Claudia Dufke, Zofia Fleszar

|Jan 17, 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

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Frequent Collaborators

12 joint publications

Tobias Haack

8 joint publications

Olaf Riess

6 joint publications

German Demidov

6 joint publications

Stephan Ossowski

5 joint publications

Martje Pauly

5 joint publications

Matthis Synofzik

4 joint publications

Ingo Kurth

4 joint publications

Katja Lohmann

4 joint publications

Claudia Dufke

4 joint publications

Miriam Elbracht

Frequent Collaborators

12 joint publications

Tobias Haack

8 joint publications

Olaf Riess

6 joint publications

German Demidov

6 joint publications

Stephan Ossowski

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