Your search returned 16 results.

Results
	1.	Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex. [electronic resource] by Di Fruscio, Giuseppina Banfi, Sandro Nigro, Vincenzo Ballabio, Andrea Producer: 20180212 In: Methods in molecular biology (Clifton, N.J.) vol. 1594 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? [electronic resource] by Di Fruscio, Giuseppina Garofalo, Arcomaria Mutarelli, Margherita Savarese, Marco Nigro, Vincenzo Producer: 20160919 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments. [electronic resource] by Ferraro, Maria Brigida Savarese, Marco Di Fruscio, Giuseppina Nigro, Vincenzo Guarracino, Mario Rosario Producer: 20150514 In: Journal of computational biology : a journal of computational molecular cell biology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Next Generation Sequencing and ADPKD]. [electronic resource] by Restivo, Arianna Di Fruscio, Giuseppina Masella, Cristina Rinaldi, Luca Capolongo, Giovanna Raiola, Ilaria Capasso, Giovambattista Publication details: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Dec 2015 In: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia vol. 35 Availability: No items available. Save to lists Add to cart (remove)
	5.	MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. [electronic resource] by Savarese, Marco Di Fruscio, Giuseppina Mutarelli, Margherita Torella, Annalaura Magri, Francesca Santorelli, Filippo Maria Comi, Giacomo Pietro Bruno, Claudio Nigro, Vincenzo Producer: 20150529 In: Acta neuropathologica communications vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Dominant muscular dystrophy with a novel SYNE1 gene mutation. [electronic resource] by Fanin, Marina Savarese, Marco Nascimbeni, Anna C Di Fruscio, Giuseppina Pastorello, Ebe Tasca, Elisabetta Trevisan, Carlo P Nigro, Vincenzo Angelini, Corrado Producer: 20150309 In: Muscle & nerve vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. [electronic resource] by Di Fruscio, Giuseppina Schulz, Angela De Cegli, Rossella Savarese, Marco Mutarelli, Margherita Parenti, Giancarlo Banfi, Sandro Braulke, Thomas Nigro, Vincenzo Ballabio, Andrea Producer: 20160422 In: Autophagy vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant. [electronic resource] by 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 Producer: 20150811 In: Ophthalmic genetics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. [electronic resource] by 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 Publication details: Genes Oct 2017 In: Genes vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Enhancer chip: detecting human copy number variations in regulatory elements. [electronic resource] by 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 Producer: 20130620 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Familial trisomy 6p in mother and daughter. [electronic resource] by 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 Producer: 20140214 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. [electronic resource] by 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 Producer: 20170428 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. [electronic resource] by 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 Producer: 20160314 In: Neuromuscular disorders : NMD vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. [electronic resource] by 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 Producer: 20191022 In: Neuromuscular disorders : NMD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. [electronic resource] by 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 Producer: 20190924 In: JAMA neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. [electronic resource] by 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 Producer: 20170505 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)