Heinz Jungbluth

17PUBLICATIONS
106CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Life historiesGene expression (incl. microarray and other genome-wide approaches)Infant and child health
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Publications (17)

|Nov 03, 2026
Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients.

|May 12, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

|Oct 07, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh

|Sep 27, 2025
Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.

Nick Kruijt, Sanne A J H van de Camp, Jasper J Kramer

|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

|Oct 18, 2024
An update on autophagy disorders.

Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari

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Frequent Collaborators

4 joint publications

Erik-Jan Kamsteeg

4 joint publications

Hormos Salimi Dafsari

3 joint publications

Luuk R van den Bersselaar

3 joint publications

Manolis Fanto