New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Journal of Molecular Neuroscience

Volumn 59, Issue 3, 2016, Pages 351-359

  Piga, Daniela ^a   Magri, Francesca ^a   Ronchi, Dario ^a   Corti, Stefania ^a   Cassandrini, Denise ^b   Mercuri, Eugenio ^c   Tasca, Giorgio ^d   Bertini, Enrico ^e   Fattori, Fabiana ^e   Toscano, Antonio ^f   Messina, Sonia ^f   Moroni, Isabella ^g   Mora, Marina ^g   Moggio, Maurizio ^a   Colombo, Irene ^a   Giugliano, Teresa ^h,i   Pane, Marika ^c   Fiorillo, Chiara ^j   D’Amico, Adele ^e   Bruno, Claudio ^j   Nigro, Vincenzo ^h,i   Bresolin, Nereo ^a   Comi, Giacomo Pietro ^a   more..

^a UNIVERSITY OF MILAN   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^d IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITY OF MESSINA   (Italy)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h SECOND UNIVERSITY OF NAPLES   (Italy)

ⁱ TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^j G GASLINI INSTITUTE   (Italy)

more..

Author keywords

NEB mutations; Nemaline myopathy; Next generation sequencing

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTRON; ITALIAN (CITIZEN); MALE; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; NEMALINE MYOPATHY; NEXT GENERATION SEQUENCING; PROMOTER REGION; RNA SEQUENCE; SEQUENCE ANALYSIS; DNA SEQUENCE; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PATHOLOGY; PROCEDURES; YOUNG ADULT;

MUSCLE PROTEIN; NEBULIN;

CHILD; DNA COPY NUMBER VARIATIONS; GENETIC TESTING; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTRONS; MUSCLE PROTEINS; MUTATION; MYOPATHIES, NEMALINE; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84964273844     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-016-0739-2     Document Type: Article

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