Alice Dica

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carla Moran et al. · The Lancet Diabetes & Endocrinology · 2019 · 122 citations · Full text

Iodine Deficiency Disorders, Pharmacology, Mct8 Deficiency +3

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

Disease Characteristics, Disease Mechanism, Genetic Disorder +10

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Ferdy S. van Geest, Stefan Groeneweg, Erica L T van den Akker et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 45 citations · Full text

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy et al. · European Journal of Human Genetics · 2016 · 44 citations · Full text

Photoreceptor Cell, Signal Transduction, Retina +7

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

Dana Craiu, Octavia Dragostin, Alice Dica et al. · European Journal of Paediatric Neurology · 2014 · 30 citations

Neuro-oncology, Clinical Onset Signs, Mfsd8 Gene +5