The genetic basis of undiagnosed muscular dystrophies and myopathies

Neurology

Volumn 87, Issue 1, 2016, Pages 71-76

  Savarese, Marco ^a,b   Di Fruscio, Giuseppina ^a,b   Torella, Annalaura ^a,b   Fiorillo, Chiara ^c   Magri, Francesca ^d   Fanin, Marina ^f   Ruggiero, Lucia ^g   Ricci, Giulia ^h   Astrea, Guja ⁱ   Passamano, Luigia ^a   Ruggieri, Alessandra ^j   Ronchi, Dario ^d   Tasca, Giorgio ^k   D'Amico, Adele ^l   Janssens, Sandra ^m   Farina, Olimpia ^a   Mutarelli, Margherita ^b   Marwah, Veer Singh ^b   Garofalo, Arcomaria ^a,b   Giugliano, Teresa ^a,b   Sanpaolo, Simone ^a   Del Vecchio Blanco, Francesca ^a   Esposito, Gaia ^a,b   Piluso, Giulio ^a   D'Ambrosio, Paola ^a   Petillo, Roberta ^a   Musumeci, Olimpia ⁿ   Rodolico, Carmelo ⁿ   Messina, Sonia ⁿ   Evilä, Anni ^o   Hackman, Peter ^o   Filosto, Massimiliano ^p   Di Iorio, Giuseppe ^a   Siciliano, Gabriele ^h   Mora, Marina ^j   Maggi, Lorenzo ^j   Minetti, Carlo ^c   Sacconi, Sabrina ^q   Santoro, Lucio ^g   Claes, Kathleen ^m   Vercelli, Liliana ^r   Mongini, Tiziana ^r   Ricci, Enzo ^s   Gualandi, Francesca ^t   Tupler, Rossella ^u   De Bleecker, Jan ^m   Udd, Bjarne ^o   Toscano, Antonio ⁿ   Moggio, Maurizio ^e   Pegoraro, Elena ^f   Bertini, Enrico ^l   Mercuri, Eugenio ^s   Angelini, Corrado ^v   Santorelli, Filippo Maria ⁱ   Politano, Luisa ^a   Bruno, Claudio ^c   Comi, Giacomo Pietro ^d   Nigro, Vincenzo ^a,b   more..

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d Dipartimento di Fisiopatologia Medico Chirurgica e dei Trapianti via F Sforza   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h UNIVERSITY OF PISA   (Italy)

ⁱ DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^j DEPARTMENT OF NEUROSURGERY   (Italy)

^k IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^l BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^m GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁿ UNIVERSITY OF MESSINA   (Italy)

^o UNIVERSITY OF HELSINKI   (Finland)

^p SPEDALI CIVILI   (Italy)

^q CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^r UNIVERSITY OF TURIN   (Italy)

^s CATHOLIC UNIVERSITY   (Italy)

^t UNIVERSITY HOSPITAL OF FERRARA   (Italy)

^u UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^v IRCCS SAN CAMILLO HOSPITAL   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CLINICAL EVALUATION; CONGENITAL MYOPATHY; DISTAL MYOPATHY; FEMALE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; METABOLIC MYOPATHY; MOLECULAR DIAGNOSIS; MYOPATHY; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; WORKFLOW; COHORT ANALYSIS; DIFFERENTIAL DIAGNOSIS; GENETIC VARIATION; GENETICS; ITALY; MUSCULAR DYSTROPHY; SEQUENCE ANALYSIS;

COHORT STUDIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC VARIATION; HUMANS; ITALY; MALE; MUSCULAR DYSTROPHIES; SEQUENCE ANALYSIS;

EID: 84977469403     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002800     Document Type: Article

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