Carmen Burloiu

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Life Sciences, Neuroscience, Physiology +15

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Matthias Sauter, Elena Belousova, Mirjana P. Benedik et al. · Orphanet Journal of Rare Diseases · 2021 · 43 citations · Full text

Life Sciences, Genetics, Genitourinary Oncology +13

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik et al. · Journal of Neurodevelopmental Disorders · 2020 · 35 citations · Full text

Medicine, Psychiatry, Psychology +16

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Rita Selvatici, Rachele Rossi, F. Fortunato et al. · Neurology Genetics · 2020 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A case of Bardet‑Biedl syndrome caused by a recurrent variant in<i>BBS12</i>: A case report

Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu et al. · Biomedical Reports · 2021 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14