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Journal of Inherited Metabolic Disease|July 16, 2015
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomicsLucia Abela, Luke Simmons, Katharina Steindl, et al.Neurology|March 25, 2014
Pyridoxine responsiveness in novel mutations of the PNPO geneBarbara Plecko, Karl Paul, Philippa Mills, et al.Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.Brain : a Journal of Neurology|January 19, 2024
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapyLucia Abela, Lorita Gianfrancesco, Erica Tagliatti, et al.Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.European Journal of Human Genetics : EJHG|December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studySorina M Papuc, Lucia Abela, Katharina Steindl, et al.The Journal of Clinical Endocrinology and Metabolism|May 27, 2025
MCT8 Deficiency in FemalesStefan Groeneweg, Ferdy S van Geest, Floor van der Most, et al.Pageof 3