Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marina Martinez Popple"'
Autor:
Silvia Boeri, Marina Martinez Popple, Thea Giacomini, Tommaso Bellini, Mariasavina Severino, Andrea Rossi, Carla Debbia, Silvana Ancona, Elena Aldera, Lino Nobili, Laura Siri
Publikováno v:
Neuropediatrics. 54:073-077
Introduction Most coronavirus disease 2019 (COVID-19) pediatric patients are asymptomatic; however, several neurological manifestations associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection have been reported. Demyeli
Autor:
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Publikováno v:
Genes. 14:810
The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical featu