Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis

by Monica Consonni, Valeria E. Contarino, Eleonora Catricalà, Eleonora Dalla Bella, Viviana Pensato, Cinzia Gellera, Giuseppe Lauria, Stefano F. Cappa
Published 2018-01-01

An optimized method for manufacturing a clinical scale dendritic cell-based vaccine for the treatment of glioblastoma.

by Sara Nava, Marta Dossena, Simona Pogliani, Serena Pellegatta, Carlo Antozzi, Fulvio Baggi, Cinzia Gellera, Bianca Pollo, Eugenio A Parati, Gaetano Finocchiaro, Simona Frigerio
Published 2012-01-01

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: <i>OPTN</i>, <i>VCP</i>, and <i>SQSTM1</i> Variants Account for 3% of Rare Genetic Forms

by Viviana Pensato, Stefania Magri, Eleonora Dalla Bella, Pierpaola Tannorella, Enrica Bersano, Gianni Sorarù, Marta Gatti, Nicola Ticozzi, Franco Taroni, Giuseppe Lauria, Caterina Mariotti, Cinzia Gellera
Published 2020-02-01

Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages

by Anna Nigri, Lidia Sarro, Lidia Sarro, Alessia Mongelli, Chiara Pinardi, Luca Porcu, Anna Castaldo, Stefania Ferraro, Marina Grisoli, Maria Grazia Bruzzone, Cinzia Gellera, Franco Taroni, Caterina Mariotti, Lorenzo Nanetti
Published 2020-12-01

Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a <i>Drosophila</i> Model for Huntington’s Dis...

by Luisa Vernizzi, Chiara Paiardi, Giusimaria Licata, Teresa Vitali, Stefania Santarelli, Martino Raneli, Vera Manelli, Manuela Rizzetto, Mariarosa Gioria, Maria E. Pasini, Daniela Grifoni, Maria A. Vanoni, Cinzia Gellera, Franco Taroni, Paola Bellosta
Published 2020-01-01

Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis

by Monica Consonni, Eleonora Dalla Bella, Anna Nigri, Chiara Pinardi, Greta Demichelis, Luca Porcu, Cinzia Gellera, Viviana Pensato, Stefano F. Cappa, Stefano F. Cappa, Maria Grazia Bruzzone, Giuseppe Lauria, Giuseppe Lauria, Stefania Ferraro
Published 2019-05-01

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

by Silvia Bonanno, Stefania Marcuzzo, Claudia Malacarne, Eleonora Giagnorio, Riccardo Masson, Riccardo Zanin, Maria Teresa Arnoldi, Francesca Andreetta, Ornella Simoncini, Anna Venerando, Cinzia Gellera, Chiara Pantaleoni, Renato Mantegazza, Pia Bernasconi, Giovanni Baranello, Lorenzo Maggi
Published 2020-01-01

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

by Rosario Mosca, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Jaclyn Cadaoas, Vish Koppaka, Emil Kakkis, Cynthia Tifft, Camilo Toro, Simona Allievi, Cinzia Gellera, Laura Canafoglia, Gepke Visser, Ida Annunziata, Alessandra d’Azzo
Published 2020-03-01

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

by Marta Dossena, Gloria Bedini, Paola Rusmini, Elisa Giorgetti, Alessandra Canazza, Valentina Tosetti, Ettore Salsano, Anna Sagnelli, Caterina Mariotti, Cinzia Gellera, Stefania Elena Navone, Giovanni Marfia, Giulio Alessandri, Fabio Corsi, Eugenio Agostino Parati, Davide Pareyson, Angelo Poletti
Published 2014-01-01

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

by Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
Published 2018-11-01

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

by Mattia Bonzanni, Jacopo C. DiFrancesco, Raffaella Milanesi, Giulia Campostrini, Barbara Castellotti, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Ilaria Rivolta, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
Published 2018-10-01

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

by Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, Simone Brusco, Matteo Jacopo Marzi, Cecilia Palma, Gaia Colasante, Angelo Iannielli, Marianna Paulis, Chiara Cordiglieri, Serena Gea Giannelli, Paola Podini, Cinzia Gellera, Franco Taroni, Francesco Nicassio, Marco Rasponi, Vania Broccoli
Published 2020-08-01

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced l...

by Stefano Camnasio, Alessia Delli Carri, Angelo Lombardo, Iwona Grad, Caterina Mariotti, Alessia Castucci, Björn Rozell, Pietro Lo Riso, Valentina Castiglioni, Chiara Zuccato, Christelle Rochon, Yasuhiro Takashima, Giuseppe Diaferia, Ida Biunno, Cinzia Gellera, Marisa Jaconi, Austin Smith, Outi Hovatta, Luigi Naldini, Stefano Di Donato, Anis Feki, Elena Cattaneo
Published 2012-04-01

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

by Giulia Campostrini, Jacopo C. DiFrancesco, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
Published 2018-08-01

Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients

by Claudia Malacarne, Mariarita Galbiati, Eleonora Giagnorio, Paola Cavalcante, Franco Salerno, Francesca Andreetta, Cinza Cagnoli, Michela Taiana, Monica Nizzardo, Stefania Corti, Viviana Pensato, Anna Venerando, Cinzia Gellera, Silvia Fenu, Davide Pareyson, Riccardo Masson, Lorenzo Maggi, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Pia Bernasconi, Angelo Poletti, Silvia Bonanno, Stefania Marcuzzo
Published 2021-05-01

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 <i>NPC1</i> Novel Variants

by Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara Borroni, Andrea Bordugo, Francesco Brancati, Cinzia V. Russo, Maja Di Rocco, Antonio Toscano, Maurizio Scarpa, Bruno Bembi
Published 2020-03-01

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

by Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Published 2016-04-01