Bibliotecas PUC-SP - Busca Integrada

Neuronal migration disorders

di Renzo Guerrini, Elena Parrini
Pubblicato in Neurobiology of Disease (2010-05-01)

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

di Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D’Amico, Nicola Brunetti‐Pierri
Pubblicato in Molecular Genetics & Genomic Medicine (2019-06-01)

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants

di Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini
Pubblicato in Epilepsia Open (2024-02-01)

A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data

di Gianluigi Laccetta, Simona Fiori, Matteo Giampietri, Annarita Ferrari, Valentina Cetica, Manuela Bernardini, Francesca Chesi, Sara Mazzotti, Elena Parrini, Massimiliano Ciantelli, Andrea Guzzetta, Andrea Guzzetta, Paolo Ghirri
Pubblicato in Frontiers in Pediatrics (2019-09-01)

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

di Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi
Pubblicato in Endocrine Connections (2024-10-01)

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum

di Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Pubblicato in Genes (2021-08-01)

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

di Martina Riva, Sofia Ferreira, Kotaro Hayashi, Yoann Saillour, Vera P. Medvedeva, Takao Honda, Kanehiro Hayashi, Claire Altersitz, Shahad Albadri, Marion Rosello, Julie Dang, Malo Serafini, Frédéric Causeret, Olivia J. Henry, Charles-Joris Roux, Céline Bellesme, Elena Freri, Dragana Josifova, Elena Parrini, Renzo Guerrini, Filippo Del Bene, Kazunori Nakajima, Nadia Bahi-Buisson, Alessandra Pierani
Pubblicato in The Journal of Clinical Investigation (2024-08-01)