Eva Morava

26PUBLICATIONS
97CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsGene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - inorganic elements and compoundsEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (26)

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

|Apr 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

|Apr 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype.

Graeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo

|Mar 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.

Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone

|Feb 06, 2026
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG.

Hiba Daghar, Seul Kee Byeon, Claudia Maios

|Jan 28, 2026
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG.

Rameen Shah, Rohit Budhraja, Silvia Radenkovic

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Frequent Collaborators

7 joint publications

Tamas Kozicz

4 joint publications

Ethan O Perlstein

4 joint publications

Graeme Preston

3 joint publications

I J J Muffels