Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion by Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa, Michela Malacarne, Domenico Coviello, Federico Zara, Simona Baldassari

Get full text

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review by Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano

Get full text

Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? by Cristina Chelleri, Cristina Chelleri, Marcello Scala, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene, Irene Bruno, Gianluca Piccolo, Pasquale Striano, Pasquale Striano, Mariasavina Severino, Federico Zara, Maria Cristina Diana, Marco Pavanello

Get full text

Case report: A single novel calpain 3 gene variant associated with mild myopathy by Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis

Get full text