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Maedica|February 24, 2015
Intellectual disability and epilepsy in down syndromeDiana Barca, Oana Tarta-Arsene, Alice Dica, et al.
European Journal of Medical Genetics|June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformationsKatrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 3, 2014
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 signsDana Craiu, Octavia Dragostin, Alice Dica, et al.
Experimental and Therapeutic Medicine|January 3, 2022
Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from RomaniaMagdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 5, 2025
Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective StudyMaria Nedelcu, Dana Craiu, Elena Neagu, et al.
Genes|January 28, 2026
Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform ImpairmentTeodora Barbarii, Raluca Anca Tudorache, Dana Craiu, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.
The Journal of Clinical Endocrinology and Metabolism|October 22, 2021
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort StudyFerdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, et al.
The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.
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