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Heike Kölbel

9PUBLICATIONS

53CO-AUTHORS

Neurology and neuromuscular diseasesNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Metabolic medicineInfant and child health

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Publications (9)

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|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 <sup>1</sup>H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.

Afshin Saffari, Moritz Niesert, Claire Cannet

|Dec 23, 2022

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.

Heike Kölbel, Laura Modler, Astrid Blaschek

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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

1 joint publications

Peter F M van der Ven

1 joint publications

Markus Schuelke

1 joint publications

Werner Stenzel

1 joint publications

Florian Kraft

1 joint publications

Andreas Hentschel

1 joint publications

Afshin Saffari

Frequent Collaborators

3 joint publications

Andreas Roos

3 joint publications

Andrea Gangfuss

2 joint publications

Astrid Eisenkölbl

2 joint publications

Markus Weiler

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