-
1دورية أكاديمية
المؤلفون: Thangarajh, Mathula, Elfring, Gary L., Trifillis, Panayiota, McIntosh, Joseph, Peltz, Stuart W, Monique M Ryan, Andrew J Kornberg, Victoria Rodriguez Casero, Alison Wray, Kristi J Jones, Kathryn North, Nathalie Goemans, Gunnar Marceo Buyse, Craig Campbell, Jean Mah, Harvey Sarnat, Kathryn Selby, Thomas Voit, Valerie Doppler, Denis De Castro, Brigitte Chabrol, Nicolas Levy, Cecile Halbert, Yann Pereon, Armelle Magot, Julie Perrier, Jean-Yves Mahe, Ulrike Schara, Soren Lutz, Melanie Busse, Adela Della Marina, Janbernd Kirschner, Angela Stanescu, Annette Pohl, Cornelia RensingZimmerman, Enrico Bertini, Adele D'Amico, Annamaria Kofler, Adelina Carlesi, Anna Maria Bonetti, Luigino Santecchia, Francesco Emma, Gianluca Bergami, Eugenio Maria Mercuri, Gessica Vasco, Flaviana Bianco, Elena Stacy Mazzone, Roberto De Sanctis, Paolo Alfieri, Marika Pane, Sonia Messina, Giacomo Pietro Comi, Francesca Magri, Valeria Lucchini, Stefania Paola Corti, Maurizio Gualtiero Moggio, Monica Sciacco, Nereo Bresolin, Alessandro Cesare Prelle, Roberta Magri, Roberta Virgilio, Costanza Lamperti, Yoram Nevo, Taia DorWollman, Juan Vilchez, Nuria Muelas, Teresa Sevilla, Patricia Smeyers, Alberto de la Osa, Jaume Colomer, Carlos Ignacio Ortez, Andres Nascimento, Ana Febrer, Julita Medina, Mar Tulinus, Brynja Thorarinsdottir, Niklas Darin, Thomas Sejersen, Mia Hovmoller, Katherine Bushby, Volker Straub, Michela Guglieri, Anna Sarkozy, Tracey Willis, Michelle Eagle, Anna Mayhew, Francesco Muntoni, Sebahattin Cirak, Adnan Yousaf Manzur, Stephanie Ann Robb, Maria Kinali, Rosaline Christina Mary Quinlivan, Martin Richard Smith, Rajesh Pandey, Brenda Wong, James Collins, Richard Finkel, Cartsen Bonnemann, Michele Yang, Aileen Reghan Foley, Sabrina Yum, Jacinda Sampson, Mark Bromberg, Kathryn Swoboda, John Day, Peter Karachunski, Katherine Mathews, Daniel Bonthius, Karla Sue Laubenthal, Basil Darras, Peter Kang, Julie Parson, Richard Barohn, Majed Dasouki, Heather Anderson, Jeffrey Burns, Mazen Dimachkie, Mamatha Pasnoor, Yunxia Wang, Emma Ciafaloni, Chad Heatwole, Anne Connolly, Alan Pestronk, Muhammad Al-Lozi, Glenn Lopate, Paul Golumbek, Brian Sommerville, Leo Wang, Anna Wojcicka-Mitchell, Andrew Godbey, Matthew Harms, Arun Varadachary, Stanley Iyadurai, Luisa Rojas, Susan Iannacone, Chaiyos Khonghatithum, Douglas Sproule, Darryl De Vivo, Andre Constantinescu, Craig McDonald, Jay Han, Ben Renfroe, Barry Russman, Michael Sussman, Stephanie BurnsWechsler, Vern Juel, Lisa Hobson-Webb, Edward Smith
المساهمون: Mathula, Thangarajh, Gary L., Elfring, Panayiota, Trifilli, Joseph, Mcintosh, Peltz, W, Stuart, M Ryan, Monique, J Kornberg, Andrew, Rodriguez Casero, Victoria, Wray, Alison, J Jones, Kristi, North, Kathryn, Goemans, Nathalie, Marceo Buyse, Gunnar, Campbell, Craig, Mah, Jean, Sarnat, Harvey, Selby, Kathryn, Voit, Thoma, Doppler, Valerie, De Castro, Deni, Chabrol, Brigitte, Levy, Nicola, Halbert, Cecile, Pereon, Yann, Magot, Armelle, Perrier, Julie, Mahe, Jean-Yve, Schara, Ulrike, Lutz, Soren, Busse, Melanie, Della Marina, Adela, Kirschner, Janbernd, Stanescu, Angela, Pohl, Annette, Rensingzimmerman, Cornelia, Bertini, Enrico, D'Amico, Adele, Kofler, Annamaria, Carlesi, Adelina, Maria Bonetti, Anna, Santecchia, Luigino, Emma, Francesco, Bergami, Gianluca, Maria Mercuri, Eugenio, Vasco, Gessica, Bianco, Flaviana, Stacy Mazzone, Elena, De Sanctis, Roberto, Alfieri, Paolo, Pane, Marika, Messina, Sonia, Pietro Comi, Giacomo, Magri, Francesca, Lucchini, Valeria, Paola Corti, Stefania, Gualtiero Moggio, Maurizio, Sciacco, Monica, Bresolin, Nereo, Cesare Prelle, Alessandro, Magri, Roberta, Virgilio, Roberta, Lamperti, Costanza, Nevo, Yoram, Dorwollman, Taia, Vilchez, Juan, Muelas, Nuria, Sevilla, Teresa, Smeyers, Patricia, de la Osa, Alberto, Colomer, Jaume, Ignacio Ortez, Carlo, Nascimento, Andre, Febrer, Ana, Medina, Julita, Tulinus, Mar, Thorarinsdottir, Brynja, Darin, Nikla, Sejersen, Thoma, Hovmoller, Mia, Bushby, Katherine, Straub, Volker, Guglieri, Michela, Sarkozy, Anna, Willis, Tracey, Eagle, Michelle, Mayhew, Anna, Muntoni, Francesco, Cirak, Sebahattin, Yousaf Manzur, Adnan, Ann Robb, Stephanie, Kinali, Maria, Christina Mary Quinlivan, Rosaline, Richard Smith, Martin, Pandey, Rajesh, Wong, Brenda, Collins, Jame, Finkel, Richard, Bonnemann, Cartsen, Yang, Michele
مصطلحات موضوعية: Neurology (clinical)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30135256; info:eu-repo/semantics/altIdentifier/wos/WOS:000452496600002; volume:91; issue:13; firstpage:e1215; lastpage:e1219; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11570/3134770Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054074588
-
2
المؤلفون: Francesca Magri, Annalaura Torella, Corrado Angelini, Vincenzo Nigro, Luisa Politano, Olimpia Farina, Kathleen Claes, Roberta Petillo, Paola D'Ambrosio, Gabriele Siciliano, Enrico Bertini, Marina Fanin, Francesca Gualandi, Sonia Messina, Giorgio Tasca, Peter Hackman, Giulio Piluso, Alessandra Ruggieri, Simone Sanpaolo, Enzo Ricci, Jan De Bleecker, Lucia Ruggiero, Giacomo P. Comi, Sabrina Sacconi, Dario Ronchi, Adele D'Amico, Giuseppina Di Fruscio, Giulia Ricci, Eugenio Mercuri, Giuseppe Di Iorio, Chiara Fiorillo, Maurizio Moggio, Liliana Vercelli, Tiziana Mongini, Claudio Bruno, Lorenzo Maggi, Olimpia Musumeci, Marina Mora, Veer Singh Marwah, Carlo Minetti, Carmelo Rodolico, L. Passamano, Bjarne Udd, Guja Astrea, Arcomaria Garofalo, Elena Pegoraro, Margherita Mutarelli, Gaia Esposito, Sandra Janssens, Anni Evilä, Massimiliano Filosto, Francesca Del Vecchio Blanco, Lucio Santoro, Antonio Toscano, Rossella Tupler, Marco Savarese, Teresa Giugliano, Filippo M. Santorelli
المساهمون: Savarese, M, Di Fruscio, G, Torella, Annalaura, Fiorillo, C, Magri, F, Fanin, M, Ruggiero, L, Ricci, G, Astrea, G, Passamano, L, Ruggieri, A, Ronchi, D, Tasca, G, D'Amico, A, Janssens, S, Farina, O, Mutarelli, M, Marwah, V, Garofalo, A, Giugliano, T, Sampaolo, Simone, DEL VECCHIO BLANCO, Francesca, Esposito, G, Piluso, Giulio, D'Ambrosio, P, Petillo, R, Musumeci, O, Rodolico, C, Messina, S, Evilä, A, Hackman, P, Filosto, M, DI IORIO, Giuseppe, Siciliano, G, Mora, M, Maggi, L, Minetti, C, Sacconi, S, Santoro, Laura, Claes, K, Vercelli, L, Mongini, T, Ricci, E, Gualandi, F, Tupler, R, De Bleecker, J, Udd, B, Toscano, A, Moggio, M, Pegoraro, E, Bertini, E, Mercuri, E, Angelini, C, Santorelli, Fm, Politano, Luisa, Bruno, C, Comi, Gp, Nigro, Vincenzo
المصدر: Neurology
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Pathology, MENDELIAN DISEASE, Eleventh, Bioinformatics, Muscular Dystrophies, Cohort Studies, 0302 clinical medicine, congenital myopathy, 030212 general & internal medicine, Muscular dystrophy, limb-girdle muscular dystrophy, Phenotype, MENDELIAN DISEASE, NEUROMUSCULAR DISORDERS, DIAGNOSIS, PHENOTYPES, DUCHENNE, 3. Good health, Italy, Female, medicine.symptom, Sequence Analysis, muscular dystrophy, medicine.medical_specialty, PHENOTYPES, DIAGNOSIS, Article, Diagnosis, Differential, 03 medical and health sciences, NEUROMUSCULAR DISORDERS, Genetic variation, medicine, Humans, Myopathy, business.industry, Genetic Variation, Correction, Regret, Molecular diagnostics, medicine.disease, Congenital myopathy, neuromuscular disorder, 030104 developmental biology, Disease Presentation, next-generation sequencing, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cadf28abf1d6c5d4370d160d717b4a33Test
http://hdl.handle.net/11570/3094488Test