Advances in the genetics of primary torsion dystonia

por Valente, Enza Maria, Albanese, Alberto
Publicado 2010

Genetic Issues in the Diagnosis of Dystonias

por Petrucci, Simona, Valente, Enza Maria
Publicado 2013

Joubert Syndrome and related disorders

por Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Publicado 2010

Genotype–phenotype correlates in Joubert syndrome: A review

por Gana, Simone, Serpieri, Valentina, Valente, Enza Maria
Publicado 2022

“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

por Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria
Publicado 2016

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl

por Jain, Sakshi, Bhasin, Himani, Romani, Marta, valente, Enza maria, Sharma, Suvasini
Publicado 2019

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report

por Picillo, Marina, Scannapieco, Sara, Iavarone, Alessandro, Ginevrino, Monia, Valente, Enza Maria, Barone, Paolo
Publicado 2021

Profiling the Biochemical Signature of GBA‐Related Parkinson's Disease in Peripheral Blood Mononuclear Cells

por Avenali, Micol, Cerri, Silvia, Ongari, Gerardo, Ghezzi, Cristina, Pacchetti, Claudio, Tassorelli, Cristina, Valente, Enza Maria, Blandini, Fabio
Publicado 2021

PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic Cleavage

por Brunelli, Francesco, Torosantucci, Liliana, Gelmetti, Vania, Franzone, Davide, Grünewald, Anne, Krüger, Rejko, Arena, Giuseppe, Valente, Enza Maria
Publicado 2022

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

por Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Publicado 2016

Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment

por Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
Publicado 2020

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function

por Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
Publicado 2020

GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease

por Cerri, Silvia, Ghezzi, Cristina, Ongari, Gerardo, Croce, Stefania, Avenali, Micol, Zangaglia, Roberta, Di Monte, Donato A., Valente, Enza Maria, Blandini, Fabio
Publicado 2021

AMBRA1 regulates mitophagy by interacting with ATAD3A and promoting PINK1 stability

por Di Rienzo, Martina, Romagnoli, Alessandra, Ciccosanti, Fabiola, Refolo, Giulia, Consalvi, Veronica, Arena, Giuseppe, Valente, Enza Maria, Piacentini, Mauro, Fimia, Gian Maria
Publicado 2021

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome

por Ciaccio, Claudia, Pantaleoni, Chiara, Moscatelli, Marco, Chiapparini, Luisa, Nigro, Vincenzo, Valente, Enza Maria, Sciacca, Francesca, Canafoglia, Laura, Bulgheroni, Sara, D'Arrigo, Stefano
Publicado 2023

Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies

por Onofrj, Marco, Varanese, Sara, Bonanni, Laura, Taylor, John-Paul, Antonini, Angelo, Valente, Enza Maria, Petrucci, Simona, Stocchi, Fabrizio, Thomas, Astrid, Perfetti, Bernardo
Publicado 2013

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

por Testa, Francesco, Sodi, Andrea, Signorini, Sabrina, Di Iorio, Valentina, Murro, Vittoria, Brunetti-Pierri, Raffaella, Valente, Enza Maria, Karali, Marianthi, Melillo, Paolo, Banfi, Sandro, Simonelli, Francesca
Publicado 2021

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

por Franceschi, Roberto, Maines, Evelina, Bellizzi, Maria, Rivieri, Francesca, Bacca, Andrea, Filippi, Alessandra, Valente, Enza Maria, Plumari, Massimo, Soffiati, Massimo, Vincenzi, Monica, Teofoli, Francesca, Camilot, Marta
Publicado 2022

Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form

por Makovac, Elena, Cercignani, Mara, Serra, Laura, Torso, Mario, Spanò, Barbara, Petrucci, Simona, Ricciardi, Lucia, Ginevrino, Monia, Caltagirone, Carlo, Bentivoglio, Anna Rita, Valente, Enza Maria, Bozzali, Marco
Publicado 2016

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

por Altieri, Filomena, D'Anzi, Angela, Martello, Francesco, Tardivo, Silvia, Spasari, Iolanda, Ferrari, Daniela, Bernardini, Laura, Lamorte, Giuseppe, Mazzoccoli, Gianluigi, Valente, Enza Maria, Vescovi, Angelo Luigi, Rosati, Jessica
Publicado 2019