Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview

por Simonati, Alessandro, Williams, Ruth E.
Publicado 2022

Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update

por Simonati, Alessandro, Williams, Ruth Elizabeth, Schulz, Angela
Publicado 2022

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

por Vaisfeld, Alessandro, Taormina, Sara, Simonati, Alessandro, Neri, Giovanni
Publicado 2022

MECP2 duplication phenotype in symptomatic females: report of three further cases

por Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Publicado 2014

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

por Morani, Federica, Doccini, Stefano, Sirica, Roberto, Paterno, Marta, Pezzini, Francesco, Ricca, Ivana, Simonati, Alessandro, Delledonne, Massimo, Santorelli, Filippo Maria
Publicado 2019

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model

por Morani, Federica, Doccini, Stefano, Galatolo, Daniele, Pezzini, Francesco, Soliymani, Rabah, Simonati, Alessandro, Lalowski, Maciej M., Gemignani, Federica, Santorelli, Filippo M.
Publicado 2022

Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells

por Demontis, Gian Carlo, Pezzini, Francesco, Margari, Elisa, Bianchi, Marzia, Longoni, Biancamaria, Doccini, Stefano, Lalowski, Maciej Maurycy, Santorelli, Filippo Maria, Simonati, Alessandro
Publicado 2020

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy

por Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo
Publicado 2021

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

por Pezzini, Francesco, Bianchi, Marzia, Benfatto, Salvatore, Griggio, Francesca, Doccini, Stefano, Carrozzo, Rosalba, Dapkunas, Arvydas, Delledonne, Massimo, Santorelli, Filippo M., Lalowski, Maciej M., Simonati, Alessandro
Publicado 2017

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

por Santorelli, Filippo Maria, Garavaglia, Barbara, Cardona, Francesco, Nardocci, Nardo, Bernardina, Bernardo Dalla, Sartori, Stefano, Suppiej, Agnese, Bertini, Enrico, Claps, Dianela, Battini, Roberta, Biancheri, Roberta, Filocamo, Mirella, Pezzini, Francesco, Simonati, Alessandro
Publicado 2013

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction

por Doccini, Stefano, Morani, Federica, Nesti, Claudia, Pezzini, Francesco, Calza, Giulio, Soliymani, Rabah, Signore, Giovanni, Rocchiccioli, Silvia, Kanninen, Katja M., Huuskonen, Mikko T., Baumann, Marc H., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Publicado 2020

Quantitative analysis of PPT1 interactome in human neuroblastoma cells

por Scifo, Enzo, Szwajda, Agnieszka, Soliymani, Rabah, Pezzini, Francesco, Bianchi, Marzia, Dapkunas, Arvydas, Dębski, Janusz, Uusi-Rauva, Kristiina, Dadlez, Michał, Gingras, Anne-Claude, Tyynelä, Jaana, Simonati, Alessandro, Jalanko, Anu, Baumann, Marc H., Lalowski, Maciej
Publicado 2015

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

por Doccini, Stefano, Marchese, Maria, Morani, Federica, Gammaldi, Nicola, Mero, Serena, Pezzini, Francesco, Soliymani, Rabah, Santi, Melissa, Signore, Giovanni, Ogi, Asahi, Rocchiccioli, Silvia, Kanninen, Katja M., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Publicado 2022

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

por Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella
Publicado 2011

CLN8 is an ER cargo receptor that regulates lysosome biogenesis

por di Ronza, Alberto, Bajaj, Lakshya, Sharma, Jaiprakash, Sanagasetti, Deepthi, Lotfi, Parisa, Adamski, Carolyn Joy, Collette, John, Palmieri, Michela, Amawi, Abdallah, Popp, Lauren, Chang, Kevin Tommy, Meschini, Maria Chiara, Leung, Hon-Chiu Eastwood, Segatori, Laura, Simonati, Alessandro, Sifers, Richard Norman, Santorelli, Filippo Maria, Sardiello, Marco
Publicado 2018

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

por Mole, Sara E., Schulz, Angela, Badoe, Eben, Berkovic, Samuel F., de Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E., Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y., Williams, Ruth E.
Publicado 2021

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

por Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria
Publicado 2014