Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

JAMA Neurology

Volumn 71, Issue 1, 2014, Pages 32-40

  Anthony, Karen ^a   Arechavala Gomeza, Virginia ^a   Ricotti, Valeria ^a   Torelli, Silvia ^a   Feng, Lucy ^a   Janghra, Narinder ^a   Tasca, Giorgio ^b   Guglieri, Michela ^c   Barresi, Rita ^c   Armaroli, Annarita ^d   Ferlini, Alessandra ^d   Bushby, Katherine ^c   Straub, Volker ^c   Ricci, Enzo ^e   Sewry, Caroline ^a   Morgan, Jennifer ^a   Muntoni, Francesco ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF FERRARA   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; BIOLOGICAL MARKER; DYSTROPHIN; MESSENGER RNA;

ADOLESCENT; ADULT; BIOSYNTHESIS; CHEMISTRY; CHILD; CLASSIFICATION; CLINICAL TRIAL; COMPARATIVE STUDY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENETICS; HUMAN; MALE; METABOLISM; MULTICENTER STUDY; MUSCULAR DYSTROPHY; PATHOLOGY; PHASE 1 CLINICAL TRIAL; PHASE 2 CLINICAL TRIAL; PHENOTYPE; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SKELETAL MUSCLE; YOUNG ADULT;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; EXONS; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, DUCHENNE; OLIGONUCLEOTIDES, ANTISENSE; PHENOTYPE; RETROSPECTIVE STUDIES; RNA, MESSENGER; SEQUENCE DELETION; YOUNG ADULT;

EID: 84892418716     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.4908     Document Type: Article

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