An Integrated Diagnosis Strategy for Congenital Myopathies

PLoS ONE

Volumn 8, Issue 6, 2013, Pages

  Böhm, Johann ^a,b,c,d,e   Vasli, Nasim ^a,b,c,d,e   Malfatti, Edoardo ^f,g,h,i   Le Gras, Stéphanie ^a,b,c,d   Feger, Claire ^a,b,c,d,e   Jost, Bernard ^a,b,c,d   Monnier, Nicole ^j   Brocard, Julie ^k   Karasoy, Hatice ^l   Gérard, Marion ^m   Walter, Maggie C ⁿ   Reilich, Peter ⁿ   Biancalana, Valérie ^a,b,c,d,e,o   Kretz, Christine ^a,b,c,d,e   Messaddeq, Nadia ^a,b,c,d   Marty, Isabelle ^k   Lunardi, Joël ^j   Romero, Norma B ^f,h,i   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 The Collège de France   (France)

^f Institut de Myologie   (France)

^g UNIVERSITY OF SIENA   (Italy)

^h Sorbonne Université   (France)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^j GRENOBLE UNIVERSITY HOSPITAL   (France)

^k GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^l EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^m CAEN UNIVERSITY HOSPITAL   (France)

ⁿ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^o HÔPITAL CIVIL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; NEBULIN; RYANODINE RECEPTOR 1;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; HEREDITARY MUSCLE DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INDEL MUTATION; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; NEBULIN GENE; NONSENSE MUTATION; PROTEIN STABILITY; RYANODINE RECEPTOR 1 GENE; SEQUENCE ANALYSIS;

ADULT; BASE SEQUENCE; BIOPSY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLES; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84879469075     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0067527     Document Type: Article

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