Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

Brain

Volumn 135, Issue 9, 2012, Pages 2642-2660

  Kley, Rudolf A ^a   Serdaroglu Oflazer, Piraye ^b   Leber, Yvonne ^c   Odgerel, Zagaa ^d   Van Der Ven, Peter F M ^c   Olivé, Montse ^e   Ferrer, Isidro ^e   Onipe, Adekunle ^f   Mihaylov, Mariya ^c   Bilbao, Juan M ^g   Lee, Hee S ^d   Höhfeld, Jörg ^c   Djinović Carugo, Kristina ^f,h   Kong, Kester ⁱ   Tegenthoff, Martin ^a   Peters, Sören A ^a   Stenzel, Werner ^j   Vorgerd, Matthias ^a   Goldfarb, Lev G ^d   Fürst, Dieter O ^c  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b ISTANBUL UNIVERSITY   (Turkey)

^c UNIVERSITY OF BONN   (Germany)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^f UNIVERSITY OF VIENNA   (Austria)

^g SUNNYBROOK RESEARCH INSTITUTE   (Canada)

^h UNIVERSITY OF LJUBLJANA   (Slovenia)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

more..

Author keywords

filamin C mutation; filaminopathy; immunoglobulin like domain; limb girdle myopathy; myofibrillar myopathy

Indexed keywords

FILAMIN; FILAMIN C; PROTEASOME; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOPHAGY; CELL CULTURE; CLINICAL ARTICLE; FEMALE; FILAMINOPATHY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; IMMUNOFLUORESCENCE; MALE; MOLECULAR PATHOLOGY; MYOBLAST; MYOPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING;

EID: 84866360574     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws200     Document Type: Article

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