Improving the course of muscular dystrophy?

द्वारा NIGRO, VINCENZO
प्रकाशित 2012

Acta Myologica Online

द्वारा Nigro, Vincenzo
में प्रकाशित Acta Myol (2016)

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

द्वारा NIGRO, VINCENZO, PILUSO, GIULIO
प्रकाशित 2012

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

द्वारा NIGRO, VINCENZO, SAVARESE, MARCO
प्रकाशित 2014

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

द्वारा Angelini, Corrado, Grisold, Wolfgang, Nigro, Vincenzo
प्रकाशित 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

द्वारा D’AMBROSIO, PAOLA, ORSINI, CHIARA, NIGRO, VINCENZO, POLITANO, LUISA
में प्रकाशित Acta Myol (2018)

GYG1 gene mutations in a family with polyglucosan body myopathy

द्वारा Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
में प्रकाशित Neurol Genet (2015)

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

द्वारा Di Fruscio, Giuseppina, Garofalo, Arcomaria, Mutarelli, Margherita, Savarese, Marco, Nigro, Vincenzo
में प्रकाशित Eur J Hum Genet (2016)

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

द्वारा Giugliano, Teresa, Fanin, Marina, Savarese, Marco, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
में प्रकाशित Neuromuscul Disord (2016)

Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

द्वारा Cacciottolo, Mafalda, Belcastro, Vincenzo, Laval, Steve, Bushby, Kate, di Bernardo, Diego, Nigro, Vincenzo
प्रकाशित 2011

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

द्वारा Santoro, Claudia, Maietta, Anna, Giugliano, Teresa, Melis, Daniela, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio
में प्रकाशित Eur J Hum Genet (2015)

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

द्वारा Pollini, Luca, Galosi, Serena, Nardecchia, Francesca, Musacchia, Francesco, Castello, Raffaele, Nigro, Vincenzo, Leuzzi, Vincenzo
में प्रकाशित Mov Disord Clin Pract (2019)

A new family with transportinopathy: increased clinical heterogeneity

द्वारा Angelini, Corrado, Marozzo, Roberta, Pinzan, Elena, Pegoraro, Valentina, Molnar, Maria Judit, Torella, Annalaura, Nigro, Vincenzo
में प्रकाशित Ther Adv Neurol Disord (2019)

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

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

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

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

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

द्वारा Acampora, Dario, Di Giovannantonio, Luca Giovanni, Garofalo, Arcomaria, Nigro, Vincenzo, Omodei, Daniela, Lombardi, Alessia, Zhang, Jingchao, Chambers, Ian, Simeone, Antonio
में प्रकाशित Stem Cell Reports (2017)

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

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

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

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

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

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

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

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