Irena Josephina Johanna Muffels

6PUBLICATIONS
9CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsMolecular targetsGene and molecular therapyGene expression (incl. microarray and other genome-wide approaches)Haematological tumours
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Publications (6)

|Jun 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

|Jul 17, 2025
Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS.

I J J Muffels, R Budhraja, R Shah

|Mar 10, 2025
The Therapeutic Future for Congenital Disorders of Glycosylation.

I J J Muffels, T Kozicz, E O Perlstein

|Feb 07, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.

Irena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro

|Nov 14, 2024
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.

I J J Muffels, M Sadek, T Kozicz

|Nov 22, 2021
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Irena J J Muffels, Elsa Wiame, Sabine A Fuchs

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Frequent Collaborators

3 joint publications

T Kozicz

3 joint publications

E Morava

2 joint publications

E O Perlstein

1 joint publications

K A Kantautas