The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri, Francesca, Nigro, Vincenzo, Angelini, Corrado, Mongini, Tiziana, Mora, Marina, Moroni, Isabella, Toscano, Antonio, D'angelo, Maria Grazia, Tomelleri, Giuliano, Siciliano, Gabriele, Ricci, Giulia, Bruno, Claudio, Corti, Stefania, Musumeci, Olimpia, Tasca, Giorgio, Ricci, Enzo, Monforte, Mauro, Sciacco, Monica, Fiorillo, Chiara, Gandossini, Sandra, Minetti, Carlo, Morandi, Lucia, Savarese, Marco, Fruscio, Giuseppina Di, Semplicini, Claudio, Pegoraro, Elena, Govoni, Alessandra, Brusa, Roberta, Del Bo, Roberto, Ronchi, Dario, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro
Published in Muscle & nerve (01.01.2017)
Published in Muscle & nerve (01.01.2017)
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Journal Article
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Di Fruscio, Giuseppina, Schulz, Angela, De Cegli, Rossella, Savarese, Marco, Mutarelli, Margherita, Parenti, Giancarlo, Banfi, Sandro, Braulke, Thomas, Nigro, Vincenzo, Ballabio, Andrea
Published in Autophagy (01.01.2015)
Published in Autophagy (01.01.2015)
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Journal Article
Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex
Di Fruscio, Giuseppina, Banfi, Sandro, Nigro, Vincenzo, Ballabio, Andrea
Published in Methods in molecular biology (Clifton, N.J.) (2017)
Published in Methods in molecular biology (Clifton, N.J.) (2017)
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Journal Article
KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer
Ottaiano, Alessandro, Nasti, Guglielmo, Santorsola, Mariachiara, Altieri, Vincenzo, Di Fruscio, Giuseppina, Circelli, Luisa, Luce, Amalia, Cossu, Alessia Maria, Scognamiglio, Giosuè, Perri, Francesco, Correra, Marco, Belli, Andrea, Delrio, Paolo, Botti, Gerardo, Caraglia, Michele
Published in Frontiers in oncology (29.03.2021)
Published in Frontiers in oncology (29.03.2021)
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Journal Article
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
Di Iorio, Valentina, Karali, Marianthi, Brunetti-Pierri, Raffaella, Filippelli, Mariaelena, Di Fruscio, Giuseppina, Pizzo, Mariateresa, Mutarelli, Margherita, Nigro, Vincenzo, Testa, Francesco, Banfi, Sandro, Simonelli, Francesca
Published in Genes (20.10.2017)
Published in Genes (20.10.2017)
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Journal Article
Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments
Ferraro, Maria Brigida, Savarese, Marco, Di Fruscio, Giuseppina, Nigro, Vincenzo, Guarracino, Mario Rosario
Published in Journal of computational biology (01.09.2014)
Published in Journal of computational biology (01.09.2014)
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Journal Article
Enhancer chip: detecting human copy number variations in regulatory elements
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
Published in PloS one (20.12.2012)
Published in PloS one (20.12.2012)
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Journal Article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M, Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo
Published in JAMA neurology (01.05.2018)
Published in JAMA neurology (01.05.2018)
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Journal Article
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
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, Sampaolo, 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
Published in Neurology (05.07.2016)
Published in Neurology (05.07.2016)
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Journal Article
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
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
Published in Neuromuscular disorders : NMD (01.07.2015)
Published in Neuromuscular disorders : NMD (01.07.2015)
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Journal Article
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy
Testa, Francesco, Filippelli, Mariaelena, Brunetti-Pierri, Raffaella, Di Fruscio, Giuseppina, Di Iorio, Valentina, Pizzo, Mariateresa, Torella, Annalaura, Barillari, Maria Rosaria, Nigro, Vincenzo, Brunetti-Pierri, Nicola, Simonelli, Francesca, Banfi, Sandro
Published in European journal of human genetics : EJHG (01.05.2017)
Published in European journal of human genetics : EJHG (01.05.2017)
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Journal Article
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
Savarese, Marco, Di Fruscio, Giuseppina, Mutarelli, Margherita, Torella, Annalaura, Magri, Francesca, Santorelli, Filippo Maria, Comi, Giacomo Pietro, Bruno, Claudio, Nigro, Vincenzo
Published in Acta neuropathologica communications (11.09.2014)
Published in Acta neuropathologica communications (11.09.2014)
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Journal Article
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Savarese, Marco, Torella, Annalaura, Musumeci, Olimpia, Angelini, Corrado, Astrea, Guja, Bello, Luca, Bruno, Claudio, Comi, Giacomo Pietro, Di Fruscio, Giuseppina, Piluso, Giulio, Di Iorio, Giuseppe, Ergoli, Manuela, Esposito, Gaia, Fanin, Marina, Farina, Olimpia, Fiorillo, Chiara, Garofalo, Arcomaria, Giugliano, Teresa, Magri, Francesca, Minetti, Carlo, Moggio, Maurizio, Passamano, Luigia, Pegoraro, Elena, Picillo, Ester, Sampaolo, Simone, Santorelli, Filippo Maria, Semplicini, Claudio, Udd, Bjarne, Toscano, Antonio, Politano, Luisa, Nigro, Vincenzo
Published in Neuromuscular disorders : NMD (01.07.2018)
Published in Neuromuscular disorders : NMD (01.07.2018)
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Journal Article
Dominant muscular dystrophy with a novel SYNE1 gene mutation
Fanin, Marina, Savarese, Marco, Nascimbeni, Anna C., Di Fruscio, Giuseppina, Pastorello, Ebe, Tasca, Elisabetta, Trevisan, Carlo P., Nigro, Vincenzo, Angelini, Corrado
Published in Muscle & nerve (01.01.2015)
Published in Muscle & nerve (01.01.2015)
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Journal Article
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant
Savarese, Marco, Spinelli, Elide, Gandolfo, Federico, Lemma, Valentina, Di Fruscio, Giuseppina, Padoan, Rita, Morescalchi, Francesco, D'Agostino, Massimo, Savoldi, Gianfranco, Semeraro, Francesco, Nigro, Vincenzo, Bonatti, Stefano
Published in Ophthalmic genetics (01.09.2014)
Published in Ophthalmic genetics (01.09.2014)
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Journal Article
Familial trisomy 6p in mother and daughter
Savarese, Marco, Grandone, Anna, Perone, Lucia, Blanco, Francesca Del Vecchio, De Luca, Giuseppina, Di Fruscio, Giuseppina, Fogu, Giuseppina, Piluso, Giulio, Perrone, Laura, del Giudice, Emanuele Miraglia, Nigro, Vincenzo
Published in American journal of medical genetics. Part A (01.07.2013)
Published in American journal of medical genetics. Part A (01.07.2013)
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Journal Article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggier, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M, Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo
Published in Archives of neurology (Chicago) (01.05.2018)
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Published in Archives of neurology (Chicago) (01.05.2018)
Journal Article
Next Generation Sequencing and ADPKD
Restivo, Arianna, Di Fruscio, Giuseppina, Masella, Cristina, Rinaldi, Luca, Capolongo, Giovanna, Raiola, Ilaria, Capasso, Giovambattista
Published in Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia (01.12.2015)
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Published in Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia (01.12.2015)
Journal Article
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant
Savarese, Marco, Spinelli, Elide, Gandolfo, Federico, Lemma, Valentina, Di Fruscio, Giuseppina, Padoan, Rita, Morescalchi, Francesco, D'Agostino, Massimo, Savoldi, Gianfranco, Semeraro, Francesco, Nigro, Vincenzo, Bonatti, Stefano
Published in Ophthalmic Genetics (01.09.2014)
Published in Ophthalmic Genetics (01.09.2014)
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