GYG1 gene mutations in a family with polyglucosan body myopathy

Autor Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Vydáno v Neurol Genet (2015)

A new family with transportinopathy: increased clinical heterogeneity

Autor Angelini, Corrado, Marozzo, Roberta, Pinzan, Elena, Pegoraro, Valentina, Molnar, Maria Judit, Torella, Annalaura, Nigro, Vincenzo
Vydáno v Ther Adv Neurol Disord (2019)

One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography

Autor Torella, Annalaura, Trimarco, Amelia, Del Vecchio Blanco, Francesca, Cuomo, Anna, Aurino, Stefania, Piluso, Giulio, Minetti, Carlo, Politano, Luisa, Nigro, Vincenzo
Vydáno 2010

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Autor Merlini, Luciano, Sabatelli, Patrizia, Antoniel, Manuela, Carinci, Valeria, Niro, Fabio, Monetti, Giuseppe, Torella, Annalaura, Giugliano, Teresa, Faldini, Cesare, Nigro, Vincenzo
Vydáno v Skelet Muscle (2019)

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Autor Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Vydáno v Genes (Basel) (2021)

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

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

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Autor Alagia, Marianna, Cappuccio, Gerarda, Pinelli, Michele, Torella, Annalaura, Brunetti‐Pierri, Raffaella, Simonelli, Francesca, Limongelli, Giuseppe, Oppido, Guido, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Vydáno v Am J Med Genet A (2017)

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

Autor Cappuccio, Gerarda, Brunetti‐Pierri, Raffaella, Torella, Annalaura, Pinelli, Michele, Castello, Raffaele, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro, Simonelli, Francesca, Brunetti‐Pierri, Nicola
Vydáno v Mol Genet Genomic Med (2019)

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder

Autor Alagia, Marianna, Cappuccio, Gerarda, Torella, Annalaura, D'Amico, Alessandra, Mazio, Federica, Romano, Alfonso, Fecarotta, Simona, Casari, Giorgio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Vydáno v JIMD Rep (2020)

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Autor Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Vydáno v PLoS One (2020)

Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

Autor La Verde, Marco, De Falco, Luigia, Torella, Annalaura, Savarese, Giovanni, Savarese, Pasquale, Ruggiero, Raffaella, Conte, Anna, Fico, Vera, Torella, Marco, Fico, Antonio
Vydáno v BMC Med Genomics (2021)

Novel mutations in LMNA A/C gene and associated phenotypes

Autor Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa
Vydáno v Acta Myol (2015)

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

Autor Santoro, Claudia, Giugliano, Teresa, Kraemer, Markus, Torella, Annalaura, Schwitalla, Jan Claudius, Cirillo, Mario, Melis, Daniela, Berlit, Peter, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio
Vydáno v PLoS One (2018)

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Autor Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio
Vydáno v BMC Neurol (2020)

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

Autor D’AMBROSIO, PAOLA, PETILLO, ROBERTA, TORELLA, ANNALAURA, PAPA, ANDREA ANTONIO, PALLADINO, ALBERTO, ORSINI, CHIARA, ERGOLI, MANUELA, PASSAMANO, LUIGIA, NOVELLI, ANTONIO, NIGRO, VINCENZO, POLITANO, LUISA
Vydáno v Acta Myol (2019)

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

Autor 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
Vydáno v Acta Myol (2015)

Expansion of the phenotype of lateral meningocele syndrome

Autor Cappuccio, Gerarda, Apuzzo, Diletta, Alagia, Marianna, Torella, Annalaura, Pinelli, Michele, Franco, Brunella, Corrado, Bruno, del Giudice, Ennio, D'Amico, Alessandra, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Vydáno v Am J Med Genet A (2020)

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

Autor 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
Vydáno 2012

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

Autor Accogli, Andrea, Iacomino, Michele, Pinto, Francesca, Orsini, Alessandro, Vari, Maria Stella, Selmi, Raed, Torella, Annalaura, Nigro, Vincenzo, Minetti, Carlo, Severino, Mariasavina, Striano, Pasquale, Capra, Valeria, Zara, Federico
Vydáno v Neurol Genet (2017)

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

Autor 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
Vydáno 2011