Éva Morava

Brown Foundation — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

68h-index15.9kcitations574works4.32yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Glycosylation and Glycoproteins Research(135), Metabolism and Genetic Disorders(124), Mitochondrial Function and Pathology(103), Lysosomal Storage Disorders Research(56), Genomics and Rare Diseases(51)

Publications546 total

Lymphatic pumping failure in the arm precedes dermal backflow and breast cancer-related lymphedema
Breast Cancer Research·2026Open Access
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape
Pediatric Neurology·2025
Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”
Molecular Genetics and Metabolism·2025Open Access
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
2025Open Access
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction
Molecular Genetics and Metabolism·2025
Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology
ACS Omega·2025· 1 citedOpen Access
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy
2025Open Access
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report
Molecular Genetics and Metabolism·2025· 1 cited
Corrigendum to ‘Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations’ [Molecular Genetics and Metabolism Volume 146, Issues 1-2 (2025) Pages 109197]
Molecular Genetics and Metabolism·2025Open Access
Reframing primary mitochondrial disease as a sterile interferonopathy
Molecular Genetics and Metabolism·2025· 1 cited
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations
Molecular Genetics and Metabolism·2025· 2 citedOpen Access
Are viral vector-mediated therapies compatible with aberrant glycosylation?
Molecular Therapy — Methods & Clinical Development·2025Open Access
Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS
Molecular Genetics and Metabolism·2025Open Access
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases
Molecular Genetics and Metabolism·2025Open Access
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future
Molecular Genetics and Metabolism·2025· 3 citedOpen Access
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG
2025Open Access
Deciphering the Glycoproteomic Landscape of Mood Disorders: Unveiling Molecular Association Between CDG and Depression Resilience
2025Open Access
Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS
2025· 1 citedOpen Access
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
2025· 2 citedOpen Access
Dolichol synthesis defects: a cautionary note on the use of statins
Molecular Genetics and Metabolism·2025· 2 cited
page 1 of 28Next →

Frequent Co-authors

Ron A. Wevers(28), Dirk J. Lefeber(20), Richard J. Rodenburg(13), Karin Huijben(9), Jaak Jaeken(8), Joris A. Veltman(7), Jan Smeıtınk(7), Alexander Hoischen(7), Jolanta Sykut‐Cegielska(6), Monique van Scherpenzeel(6), Gert Matthijs(6), Saskia B. Wortmann(6), Tamás Kozicz(6), Ludwig Lehle(5), Maciej Adamowicz(5), Sharita Timal(5), Thatjana Gardeitchik(5), Leo A. J. Kluijtmans(5), Stephanie Grünewald(5), Gerry Steenbergen(5)