Improving the course of muscular dystrophy?

por NIGRO, VINCENZO
Publicado 2012

Acta Myologica Online

por Nigro, Vincenzo
Publicado 2016

Year 2023: a new look for Acta Myologica

por Politano, Luisa, Nigro, Vincenzo
Publicado 2023

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

por NIGRO, VINCENZO, PILUSO, GIULIO
Publicado 2012

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

por NIGRO, VINCENZO, SAVARESE, MARCO
Publicado 2014

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

por Angelini, Corrado, Grisold, Wolfgang, Nigro, Vincenzo
Publicado 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 2018

GYG1 gene mutations in a family with polyglucosan body myopathy

por Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Publicado 2015

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report

por Picillo, Esther, Torella, Annalaura, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster

por Cardiero, Giovanna, Musollino, Gennaro, Prezioso, Romeo, Nigro, Vincenzo, Lacerra, Giuseppina
Publicado 2023

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 2016

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

por Peduto, Cristina, Zanobio, Mariateresa, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio, Santoro, Claudia
Publicado 2023

Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

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

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

por Onore, Maria Elena, Savarese, Marco, Picillo, Esther, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review lite...

por Pizza, Antonella, Picillo, Esther, Onore, Maria Elena, Scutifero, Marianna, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2023

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 2019

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age

por Scarpini, Gaia, Valentino, Maria Lucia, Giannotta, Melania, Ragni, Luca, Torella, Annalaura, Columbaro, Marta, Nigro, Vincenzo, Pini, Antonella
Publicado 2021

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution

por Palladino, Alberto, Papa, Andrea Antonio, Petillo, Roberta, Scutifero, Marianna, Morra, Salvatore, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

por Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Publicado 2023

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

por Viggiano, Emanuela, Picillo, Esther, Passamano, Luigia, Onore, Maria Elena, Piluso, Giulio, Scutifero, Marianna, Torella, Annalaura, Nigro, Vincenzo, Politano, Luisa
Publicado 2023