Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Brain

Volumn 137, Issue 12, 2014, Pages 3160-3170

  Böhm, Johann ^a,b,c,d,e   Biancalana, Valérie ^a,b,c,d,e,f   Malfatti, Edoardo ^b,g,h   Dondaine, Nicolas ^f   Koch, Catherine ^a,b,c,d,e   Vasli, Nasim ^a,b,c,d,e   Kress, Wolfram ⁱ   Strittmatter, Matthias ^j   Taratuto, Ana Lia ^k   Gonorazky, Hernan ^l   Laforêt, Pascal ^g   Maisonobe, Thierry ^g   Olivé, Montse ^m   Gonzalez Mera, Laura ^m   Fardeau, Michel ^b,g   Carrière, Nathalie ^b,n,o   Clavelou, Pierre ^b,n,o   Eymard, Bruno ^g   Bitoun, Marc ^b   Rendu, John ^p   Fauré, Julien ^p   Weis, Joachim ^q   Mandel, Jean Louis ^a,b,c,d,e,f   Romero, Norma B ^b,g   Laporte, Jocelyn ^b,n,o   more..

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

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e l'alimentation et l'Environnement   (France)

^f HÔPITAL CIVIL   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h UNIVERSITY OF SIENA   (Italy)

ⁱ UNIVERSITY OF WÜRZBURG   (Germany)

^j Department of Neurology SHG Klinikum   (Germany)

^k FLENI   (Argentina)

^l HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^m HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

ⁿ UNIVERSITÉ CLERMONT AUVERGNE   (France)

^o UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^p Toxicologie et Pharmacologie   (France)

^q RWTH AACHEN UNIVERSITY   (Germany)

more..

Author keywords

Amphiphysin 2; BIN1; Centronuclear myopathy; DNM2; T tubule

Indexed keywords

AMPHIPHYSIN; AMPHIPHYSIN 2; CAVEOLIN 3; DYNAMIN II; PROTEIN P62; UNCLASSIFIED DRUG; BIN1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ANTIBODY LABELING; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASEMENT MEMBRANE; CENTRALIZATION; CENTRONUCLEAR MYOPATHY; COHORT ANALYSIS; CONTROLLED STUDY; FACE DISORDER; GENE MUTATION; HISTOLOGY; HUMAN; HYPOTROPHY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SARCOLEMMA; WEAKNESS; FEMALE; GENETICS; MALE; METABOLISM; MIDDLE AGED; MUTATION; MYOPATHY; ONSET AGE; SKELETAL MUSCLE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGE OF ONSET; DYNAMIN II; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NUCLEAR PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 84921389043     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu272     Document Type: Article

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