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

OBJECTIVE: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. METHODS: We applied an NGS-based platform named MotorPlex to our diagnostic workflow to test muscle disease genes wit...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Neurology
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Lippincott Williams & Wilkins 2016
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4932234/
https://ncbi.nlm.nih.gov/pubmed/27281536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002800
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