Steps to Improve Precision Medicine in Epilepsy

por Balestrini, S., Mei, D., Sisodiya, S. M., Guerrini, Renzo
Publicado 2023

Antiepileptic Drug Treatment in Children with Epilepsy

por Rosati, Anna, De Masi, Salvatore, Guerrini, Renzo
Publicado 2015

Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach?

por Balestrini, Simona, Guerrini, Renzo, Sisodiya, Sanjay M.
Publicado 2021

Malformations of cortical development and epilepsy

por Leventer, Richard J., Guerrini, Renzo, Dobyns, William B.
Publicado 200

Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies

por Guerrini, Renzo, Balestrini, Simona, Wirrell, Elaine C., Walker, Matthew C.
Publicado 2021

Making Memories: The Development of Long-Term Visual Knowledge in Children with Visual Agnosia

por Metitieri, Tiziana, Barba, Carmen, Pellacani, Simona, Viggiano, Maria Pia, Guerrini, Renzo
Publicado 2013

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

por Mastrangelo, Mario, Manti, Filippo, Giannini, Maria Teresa, Guerrini, Renzo, Leuzzi, Vincenzo
Publicado 2020

Facial Nerve Tumors in Children: Two Clinical Cases and a Review of the Literature

por Guidi, Mariapaola, Giordano, Flavio, Peraio, Simone, Conti, Greta, Guerrini, Renzo, Trabalzini, Franco
Publicado 2023

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

por Fassio, Anna, Falace, Antonio, Esposito, Alessandro, Aprile, Davide, Guerrini, Renzo, Benfenati, Fabio
Publicado 2020

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

por Ferri, Lorenzo, Covello, Giuseppina, Caciotti, Anna, Guerrini, Renzo, Denti, Michela Alessandra, Morrone, Amelia
Publicado 2016

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

por Oegema, Renske, Barkovich, A. James, Mancini, Grazia M.S., Guerrini, Renzo, Dobyns, William B.
Publicado 2019

Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients

por Balestrini, Simona, Doccini, Viola, Boncristiano, Alessandra, Lenge, Matteo, De Masi, Salvatore, Guerrini, Renzo
Publicado 2022

A developmental and genetic classification for malformations of cortical development: update 2012

por Barkovich, A. James, Guerrini, Renzo, Kuzniecky, Ruben I., Jackson, Graeme D., Dobyns, William B.
Publicado 2012

Hemicerebellitis can drive handedness shift

por Mascalchi, Mario, Lenge, Matteo, Bianchi, Andrea, Bartolini, Emanuele, Gavazzi, Gioele, Giordano, Flavio, Guerrini, Renzo
Publicado 2017

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

por Tonin, Rodolfo, Catarzi, Serena, Caciotti, Anna, Procopio, Elena, Marini, Carla, Guerrini, Renzo, Morrone, Amelia
Publicado 2018

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy

por Guerrini, Renzo, Melani, Federico, Brancati, Claudia, Ferrari, Anna Rita, Brovedani, Paola, Biggeri, Annibale, Grisotto, Laura, Pellacani, Simona
Publicado 2015

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

por Mastrangelo, Mario, Alfonsi, Chiara, Screpanti, Isabella, Masuelli, Laura, Tavazzi, Barbara, Mei, Davide, Giannotti, Flavia, Guerrini, Renzo, Leuzzi, Vincenzo
Publicado 2019

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C

por Capitini, Claudia, Feo, Federica, Caciotti, Anna, Tonin, Rodolfo, Lulli, Matteo, Coviello, Domenico, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia
Publicado 2022

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

por Marchese, Maria, Conti, Valerio, Valvo, Giulia, Moro, Francesca, Muratori, Filippo, Tancredi, Raffaella, Santorelli, Filippo M, Guerrini, Renzo, Sicca, Federico
Publicado 2014

SARS-CoV-2 infection in a patient with propionic acidemia

por Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia
Publicado 2020