Barbara Plecko

Medical University of Graz — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

58h-index9.9kcitations308works6.12yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

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

Research Topics

Metabolism and Genetic Disorders(115), Mitochondrial Function and Pathology(40), Biochemical and Molecular Research(38), Folate and B Vitamins Research(32), Genetics and Neurodevelopmental Disorders(28)

Publications302 total

The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Two Patients with AGS9: Divergent Clinical Courses of a Rare Metabolic Disease
Neuropediatrics·2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
Brain <i>Mecp2</i> Gene Dosage and Gene Therapy Shape Multi-Omic Signatures and Biomarkers in Rett Syndrome
2025Open Access
Comment on: Lee J.Z.C. et al. Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment. Mol Genet Metab Rep. 2025;9;43:101224.
Molecular Genetics and Metabolism Reports·2025Open Access
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
Molecular Genetics and Metabolism·2025· 1 citedOpen Access
Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5′-phosphate therapy?
European Journal of Paediatric Neurology·2025· 2 cited
Inherited disorders of vitamin metabolism
European Journal of Paediatric Neurology·2025· 2 citedOpen Access
Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients
Journal of Neurology·2025· 8 citedOpen Access
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
The Lancet Regional Health - Europe·2024· 21 citedOpen Access
Disorders of Vitamin Metabolism
Elsevier eBooks·2024
Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA)
Neuropediatrics·2023Open Access
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
2023Open Access
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
Genes & Diseases·2023· 6 citedOpen Access
On pathways and blind alleys—The importance of biomarkers in vitamin <scp>B<sub>6</sub></scp>‐dependent epilepsies
Journal of Inherited Metabolic Disease·2023· 8 citedOpen Access
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy
International Journal of Molecular Sciences·2023· 4 citedOpen Access
Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases
International Journal of Molecular Sciences·2023· 20 citedOpen Access
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency
Neuropediatrics·2022· 3 cited
Confirmation of a Causal Role for <i>SHQ1</i> Variants in Early Infantile‐Onset Recessive Dystonia
Movement Disorders·2022· 8 citedOpen Access
Kinder-EEG
2022
page 1 of 16Next →

Frequent Co-authors

Eduard A. Struys(7), Matthias R. Baumgartner(7), Cornelis Jakobs(6), Peter T. Clayton(6), Heinrich Sticht(6), Anita Rauch(6), Philippa B. Mills(5), Anibh M. Das(5), Lucia Abela(5), Katharina Steindl(5), Markus Zweier(5), Hans Hartmann(4), Paul Harmatz(4), Chester B. Whitley(4), Robert D. Steiner(4), Paige Kaplan(4), John J. Hopwood(4), Markus Schuelke(4), Sylvia Stöckler‐Ipsiroglu(4), Johannes Zschocke(4)