Richard J. Rodenburg
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 189 publications
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.
Journal: The New England journal of medicine
Published: June 15, 2026
Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease.
Journal: Biochemistry and biophysics reports
Published: October 18, 2025
Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: August 26, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
Characterisation of an Adult Zebrafish Model for SDHB-Associated Phaeochromocytomas and Paragangliomas.
Journal: International journal of molecular sciences
Published: May 28, 2024
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.
Journal: Pediatric nephrology (Berlin, Germany)
Published: April 29, 2024
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.
Journal: Genes
Published: March 18, 2024
Should we be careful with exercise in post-exertional malaise after long COVID?
Journal: Nature communications
Published: March 01, 2024
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Journal: The Journal of clinical investigation
Published: February 01, 2024
Last Updated: 09/26/2026