Abela, Lucia

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Study, D. D. D. (., Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., et al. (2019) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Abela, L., Spiegel, R., Crowther, L. M., Klein, A., Steindl, K., Papuc, S. M., Joset, P., Zehavi, Y., Rauch, A., Plecko, B., et al. (2017) · PLoS ONE

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 54

N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics

Abela, L., Simmons, L., Steindl, K., Schmitt, B., Mastrangelo, M., Joset, P., Papuc, M., Sticht, H., Baumer, A., Crowther, L. M., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 43

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome

Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., et al. (2022) · Metabolites

Genetics and Neurodevelopmental DisordersMetabolomics and Mass Spectrometry Studies

Cited by 30