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

Por NIGRO, VINCENZO, SAVARESE, MARCO
Publicado em 2014

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)

Increasing Role of Titin Mutations in Neuromuscular Disorders

Por Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Publicado no J Neuromuscul Dis (2016)

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)

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

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

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

Por Di Fruscio, Giuseppina, Schulz, Angela, De Cegli, Rossella, Savarese, Marco, Mutarelli, Margherita, Parenti, Giancarlo, Banfi, Sandro, Braulke, Thomas, Nigro, Vincenzo, Ballabio, Andrea
Publicado no Autophagy (2015)

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

Por Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Nigro, Vincenzo, Santorelli, Filippo M.
Publicado no BMC Med Genet (2016)

GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex

Por D'Angelo, Giovanni, Prencipe, Libera, Iodice, Luisa, Beznoussenko, Galina, Savarese, Marco, Marra, PierFrancesco, Di Tullio, Giuseppe, Martire, Gianluca, De Matteis, Maria Antonietta, Bonatti, Stefano
Publicado em 2009

MePR: A Novel Human Mesenchymal Progenitor Model with Characteristics of Pluripotency

Por Miceli, Marco, Franci, Gianluigi, Dell'Aversana, Carmela, Ricciardiello, Francesca, Petraglia, Francesca, Carissimo, Annamaria, Perone, Lucia, Maruotti, Giuseppe Maria, Savarese, Marco, Martinelli, Pasquale, Cancemi, Massimo, Altucci, Lucia
Publicado em 2013

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

Por 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
Publicado em 2012

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

Por 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
Publicado em 2013

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Por Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, Santoro, Lucio, Ricci, Enzo, Claes, Kathleen, Politano, Luisa, Nigro, Vincenzo
Publicado no Neuromuscul Disord (2015)

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates...

Por Ferla, Rita, Claudiani, Pamela, Savarese, Marco, Kozarsky, Karen, Parini, Rossella, Scarpa, Maurizio, Donati, Maria Alice, Sorge, Giovanni, Hopwood, John J., Parenti, Giancarlo, Fecarotta, Simona, Nigro, Vincenzo, Sivri, Hatice Serap, Van Der Ploeg, Ans, Andria, Generoso, Brunetti-Pierri, Nicola, Auricchio, Alberto
Publicado no Hum Gene Ther (2015)

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

Por 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
Publicado no Neuromuscul Disord (2016)

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Por Savarese, Marco, Di Fruscio, Giuseppina, Torella, Annalaura, Fiorillo, Chiara, Magri, Francesca, Fanin, Marina, Ruggiero, Lucia, Ricci, Giulia, Astrea, Guja, Passamano, Luigia, Ruggieri, Alessandra, Ronchi, Dario, Tasca, Giorgio, D'Amico, Adele, Janssens, Sandra, Farina, Olimpia, Mutarelli, Margherita, Marwah, Veer Singh, Garofalo, Arcomaria, Giugliano, Teresa, Sanpaolo, Simone, Del Vecchio Blanco, Francesca, Esposito, Gaia, Piluso, Giulio, D'Ambrosio, Paola, Petillo, Roberta, Musumeci, Olimpia, Rodolico, Carmelo, Messina, Sonia, Evilä, Anni, Hackman, Peter, Filosto, Massimiliano, Di Iorio, Giuseppe, Siciliano, Gabriele, Mora, Marina, Maggi, Lorenzo, Minetti, Carlo, Sacconi, Sabrina, Santoro, Lucio, Claes, Kathleen, Vercelli, Liliana, Mongini, Tiziana, Ricci, Enzo, Gualandi, Francesca, Tupler, Rossella, De Bleecker, Jan, Udd, Bjarne, Toscano, Antonio, Moggio, Maurizio, Pegoraro, Elena, Bertini, Enrico, Mercuri, Eugenio, Angelini, Corrado, Santorelli, Filippo Maria, Politano, Luisa, Bruno, Claudio, Comi, Giacomo Pietro, Nigro, Vincenzo
Publicado no Neurology (2016)