GYG1 gene mutations in a family with polyglucosan body myopathy

by Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Published 2015

Unexpectedly Low Mutation Rates in Beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients With Hypertrophic Cardiomyopathy

by Roncarati, Roberta, Latronico, Michael VG, Musumeci, Beatrice, Aurino, Stefania, Torella, Annalaura, Bang, Marie-Louise, Jotti, Gloria Saccani, Puca, Annibale A, Volpe, Massimo, Nigro, Vincenzo, Autore, Camillo, Condorelli, Gianluigi
Published 2011

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

by Savarese, Marco, Piluso, Giulio, Orteschi, Daniela, Di Fruscio, Giuseppina, Dionisi, Manuela, Blanco, Francesca del Vecchio, Torella, Annalaura, Giugliano, Teresa, Iacomino, Michele, Zollino, Marcella, Neri, Giovanni, Nigro, Vincenzo
Published 2012

Novel mutations in LMNA A/C gene and associated phenotypes

by Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa
Published 2015

Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene

by TAGLIA, ANTONELLA, PETILLO, ROBERTA, D'AMBROSIO, PAOLA, PICILLO, ESTHER, TORELLA, ANNALAURA, ORSINI, CHIARA, ERGOLI, MANUELA, SCUTIFERO, MARIANNA, PASSAMANO, LUIGIA, PALLADINO, ALBERTO, NIGRO, GERARDO, POLITANO, LUISA
Published 2015

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

by Savarese, Marco, Di Fruscio, Giuseppina, Mutarelli, Margherita, Torella, Annalaura, Magri, Francesca, Santorelli, Filippo Maria, Comi, Giacomo Pietro, Bruno, Claudio, Nigro, Vincenzo
Published 2014

A G613A missense in the Hutchinson’s progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

by Villa, Francesco, Maciąg, Anna, Spinelli, Chiara C, Ferrario, Anna, Carrizzo, Albino, Parisi, Attilio, Torella, Annalaura, Montenero, Chiara, Condorelli, Gianluigi, Vecchione, Carmine, Nigro, Vincenzo, Montenero, Annibale S, Puca, Annibale A
Published 2014

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

by Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Published 2013

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

by Maciąg, Anna, Villa, Francesco, Ferrario, Anna, Spinelli, Chiara Carmela, Carrizzo, Albino, Malovini, Alberto, Torella, Annalaura, Montenero, Chiara, Parisi, Attilio, Condorelli, Gianluigi, Vecchione, Carmine, Nigro, Vincenzo, Montenero, Annibale Sandro, Puca, Annibale Alessandro
Published 2015

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

by Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo
Published 2016