Lucia Abela

Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene

Barbara Plecko, Karl Paul, Philippa B. Mills et al. · Neurology · 2014 · 98 citations · Full text

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander et al. · Frontiers in Genetics · 2015 · 95 citations · Full text

Metabolic Disorder, Iron Metabolism, Genetics +22

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 94 citations · Full text

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Anaïs Begemann, Mario A. Acuña, Markus Zweier et al. · Molecular Medicine · 2019 · 67 citations · Full text