Next generation sequencing for molecular diagnosis of neuromuscular diseases

Acta Neuropathologica

Volumn 124, Issue 2, 2012, Pages 273-283

  Vasli, Nasim ^a,b,c,d,e   Böhm, Johann ^a,b,c,d,e   Le Gras, Stéphanie ^a,b,c,d   Muller, Jean ^a,b,c,d,e   Pizot, Cécile ^a,b,c,d,e   Jost, Bernard ^a,b,c,d   Echaniz Laguna, Andoni ^f   Laugel, Vincent ^g   Tranchant, Christine ^f   Bernard, Rafaelle ^b   Plewniak, Frédéric ^a,b,c,d   Vicaire, Serge ^a,b,c,d   Levy, Nicolas ^b   Chelly, Jamel ^h   Mandel, Jean Louis ^a,b,c,d,e   Biancalana, Valérie ^a,b,c,d,e   Laporte, Jocelyn ^a,b,c,d,e  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e Centre de Recherche Interdisciplinaire en Biologie   (France)

^f HÔPITAL CIVIL   (France)

^g UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^h INSTITUT COCHIN   (France)

Author keywords

DNA barcoding; Molecular diagnosis; Myopathy; Neuromuscular disorder; Neuropathy; Sequencing

Indexed keywords

COLLAGEN TYPE 6; RYANODINE RECEPTOR 1;

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CLINICAL EVALUATION; COL6A3 GENE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC KIT; DIAGNOSTIC VALUE; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; EXONIC MUTATION; FEMALE; GENE; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC CODE; GENETIC PROCEDURES; GENETIC SCREENING; HUMAN; INDEL MUTATION; INHERITANCE; INTRONIC MUTATION; MALE; MOLECULAR DIAGNOSIS; MOLECULAR LIBRARY; MUTAGENESIS; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; PILOT STUDY; POINT MUTATION; PRIORITY JOURNAL; REPRODUCIBILITY; RYR1 GENE; SENSITIVITY ANALYSIS; TTN GENE; VALIDATION PROCESS;

DATABASES, GENETIC; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; NEUROMUSCULAR DISEASES; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84865861518     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-0982-8     Document Type: Article

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