A de novo nonsense mutation of the FUS gene in an apparently familial ALS case

par Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Barberis, Marco, Traynor, Bryan J., Carrara, Giovanna, Valentini, Consuelo, Restagno, Gabriella, Chiò, Adriano
Publié 2013

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

par Borelli, Iolanda, Barberis, Marco A, Spina, Francesca, Cavalchini, Guido C Casalis, Vivanet, Caterina, Balestrino, Luisa, Micheletti, Monica, Allavena, Anna, Sala, Paola, Carcassi, Carlo, Pasini, Barbara
Publié 2013

COMMON POLYMORPHISMS OF CHEMOKINE (C-X3-C MOTIF) RECEPTOR 1 GENE MODIFY AMYOTROPHIC LATERAL SCLEROSIS OUTCOME: A POPULATION-BASED STUDY

par Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Traynor, Bryan J., Brunetti, Maura, Barberis, Marco, Mora, Gabriele, Casale, Federico, Chiò, Adriano
Publié dans Muscle Nerve (2017)

UNC13A influences survival in Italian ALS patients: a population-based study

par Chiò, Adriano, Mora, Gabriele, Restagno, Gabriella, Brunetti, Maura, Ossola, Irene, Barberis, Marco, Ferrucci, Luigi, Canosa, Antonio, Manera, Umberto, Moglia, Cristina, Fuda, Giuseppe, Traynor, Bryan J., Calvo, Andrea
Publié 2012

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

par Capponi, Simona, Geuens, Thomas, Geroldi, Alessandro, Origone, Paola, Verdiani, Simonetta, Cichero, Elena, Adriaenssens, Elias, De Winter, Vicky, Bandettini di Poggio, Monica, Barberis, Marco, Chiò, Adriano, Fossa, Paola, Mandich, Paola, Bellone, Emilia, Timmerman, Vincent
Publié dans Hum Mutat (2016)

Cognitive impairment across ALS clinical stages in a population-based cohort

par Chiò, Adriano, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Brunetti, Maura, Barberis, Marco, Corrado, Lucia, D'Alfonso, Sandra, Bersano, Enrica, Sarnelli, Maria Francesca, Solara, Valentina, Zucchetti, Jean Pierre, Peotta, Laura, Iazzolino, Barbara, Mazzini, Letizia, Mora, Gabriele, Calvo, Andrea
Publié dans Neurology (2019)

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

par Ekong, Rosemary, Nellist, Mark, Hoogeveen‐Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue
Publié dans Hum Mutat (2016)

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

par Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Sbaiz, Luca, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Corrado, Lucia, D'Alfonso, Sandra, Mazzini, Letizia, Scholz, Sonja W., Dalgard, Clifton, Ding, Jinhui, Gibbs, Raphael J., Chia, Ruth, Traynor, Bryan J., Chiò, Adriano
Publié dans Neurology (2021)

The multistep hypothesis of ALS revisited: The role of genetic mutations

par Chiò, Adriano, Mazzini, Letizia, D'Alfonso, Sandra, Corrado, Lucia, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Bersano, Enrica, Brunetti, Maura, Barberis, Marco, Veldink, Jan H., van den Berg, Leonard H., Pearce, Neil, Sproviero, William, McLaughlin, Russell, Vajda, Alice, Hardiman, Orla, Rooney, James, Mora, Gabriele, Calvo, Andrea, Al-Chalabi, Ammar
Publié dans Neurology (2018)

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

par Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Renton, Alan E., Nalls, Mike A., Traynor, Bryan J., Restagno, Gabriella, Chiò, Adriano
Publié dans Neurobiol Aging (2015)

Genetic architecture of ALS in Sardinia

par Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D, Occhineri, Patrizia, Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Pliner, Hannah A, Renton, Alan E, Nalls, Mike A, Traynor, Bryan J, Restagno, Gabriella, Chiò, Adriano
Publié dans Neurobiol Aging (2014)

CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients

par Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Battistini, Stefania, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Penco, Silvana, Lunetta, Christian
Publié dans Neurobiol Aging (2015)

ATNX2 is not a regulatory gene in Italian ALS patients with C9ORF72 GGGGCC expansion

par Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Trojsi, Francesca, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Riva, Nilo, Carrera, Paola, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Capasso, Margherita, Tremolizzo, Lucio, Battistini, Stefania, Murru, Maria Rita, Origone, Paola, Zollino, Marcella, Penco, Silvana, Mazzini, Letizia, D’Alfonso, Sandra, Restagno, Gabriella, Brunetti, Maura, Barberis, Marco, Conforti, Francesca L.
Publié dans Neurobiol Aging (2015)