Heike Kölbel

10PUBLICATIONS
59CO-AUTHORS
Genetically modified field crops and pastureNeurology and neuromuscular diseasesNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Metabolic medicine
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Publications (10)

|Jul 24, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

|Dec 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel

|Sep 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Benedikt Becker, Isabell Cordts, Jutta Becker

|Jul 28, 2025
Lessons learned from a muscle study in nail-patella syndrome.

Luisa Paul, Anne Schänzer, Christel Depienne

|Jan 08, 2025
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

Katja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße

|Nov 27, 2024
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.

Afshin Saffari, Moritz Niesert, Claire Cannet

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Frequent Collaborators

3 joint publications

Andreas Roos

3 joint publications

Andrea Gangfuss

2 joint publications

Astrid Eisenkölbl

2 joint publications

Markus Weiler