Improving the course of muscular dystrophy?

Por NIGRO, VINCENZO
Publicado em 2012

Acta Myologica Online

Por Nigro, Vincenzo
Publicado no Acta Myol (2016)

Next generation sequencing (NGS) strategies for the genetic testing of myopathies

Por NIGRO, VINCENZO, PILUSO, GIULIO
Publicado em 2012

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

Por NIGRO, VINCENZO, SAVARESE, MARCO
Publicado em 2014

Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis

Por Angelini, Corrado, Grisold, Wolfgang, Nigro, Vincenzo
Publicado em 2011

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report

Por D’AMBROSIO, PAOLA, ORSINI, CHIARA, NIGRO, VINCENZO, POLITANO, LUISA
Publicado no Acta Myol (2018)

GYG1 gene mutations in a family with polyglucosan body myopathy

Por Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Publicado no Neurol Genet (2015)

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Por Di Fruscio, Giuseppina, Garofalo, Arcomaria, Mutarelli, Margherita, Savarese, Marco, Nigro, Vincenzo
Publicado no Eur J Hum Genet (2016)

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

Por Giugliano, Teresa, Fanin, Marina, Savarese, Marco, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Publicado no Neuromuscul Disord (2016)

Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

Por Cacciottolo, Mafalda, Belcastro, Vincenzo, Laval, Steve, Bushby, Kate, di Bernardo, Diego, Nigro, Vincenzo
Publicado em 2011

Arg(1809) substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

Por Santoro, Claudia, Maietta, Anna, Giugliano, Teresa, Melis, Daniela, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio
Publicado no Eur J Hum Genet (2015)

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant

Por Pollini, Luca, Galosi, Serena, Nardecchia, Francesca, Musacchia, Francesco, Castello, Raffaele, Nigro, Vincenzo, Leuzzi, Vincenzo
Publicado no Mov Disord Clin Pract (2019)

A new family with transportinopathy: increased clinical heterogeneity

Por Angelini, Corrado, Marozzo, Roberta, Pinzan, Elena, Pegoraro, Valentina, Molnar, Maria Judit, Torella, Annalaura, Nigro, Vincenzo
Publicado no Ther Adv Neurol Disord (2019)

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

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

Use of a Lower Dosage Liver-Detargeted AAV Vector to Prevent Hamster Muscular Dystrophy

Por Rotundo, Ida Luisa, Lancioni, Alessio, Savarese, Marco, D'Orsi, Luca, Iacomino, Michele, Nigro, Gerardo, Piluso, Giulio, Auricchio, Alberto, Nigro, Vincenzo
Publicado em 2013

Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells

Por Acampora, Dario, Di Giovannantonio, Luca Giovanni, Garofalo, Arcomaria, Nigro, Vincenzo, Omodei, Daniela, Lombardi, Alessia, Zhang, Jingchao, Chambers, Ian, Simeone, Antonio
Publicado no Stem Cell Reports (2017)

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

Por Merlini, Luciano, Sabatelli, Patrizia, Antoniel, Manuela, Carinci, Valeria, Niro, Fabio, Monetti, Giuseppe, Torella, Annalaura, Giugliano, Teresa, Faldini, Cesare, Nigro, Vincenzo
Publicado no Skelet Muscle (2019)

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

Por Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Publicado no Genes (Basel) (2021)

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

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

Disease Rescue and Increased Lifespan in a Model of Cardiomyopathy and Muscular Dystrophy by Combined AAV Treatments

Por Vitiello, Carmen, Faraso, Stefania, Sorrentino, Nicolina Cristina, Di Salvo, Giovanni, Nusco, Edoardo, Nigro, Gerardo, Cutillo, Luisa, Calabrò, Raffaele, Auricchio, Alberto, Nigro, Vincenzo
Publicado em 2009