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Document type:
journal article 
Author(s):
Lehmer, Carina; Oeckl, Patrick; Weishaupt, Jochen H; Volk, Alexander E; Diehl-Schmid, Janine; Schroeter, Matthias L; Lauer, Martin; Kornhuber, Johannes; Levin, Johannes; Fassbender, Klaus; Landwehrmeyer, Bernhard; German Consortium for Frontotemporal Lobar Degeneration; Schludi, Martin H; Arzberger, Thomas; Kremmer, Elisabeth; Flatley, Andrew; Feederle, Regina; Steinacker, Petra; Weydt, Patrick; Ludolph, Albert C; Edbauer, Dieter; Otto, Markus; Danek, Adrian; Feneberg, Emily; Anderl-Straub, Sara...    »
 
Title:
Poly-GP in cerebrospinal fluid links -associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD. 
Abstract:
The GGGGCC repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). Non-conventional repeat translation results in five dipeptide repeat proteins (DPRs), but their clinical utility, overall significance, and temporal course in the pathogenesis of c9ALS/FTD are unclear, although animal models support a gain-of-function mechanism. Here, we established a poly-GP immunoassay from cerebrospinal fluid (CSF) to identify and characterize patients. Sig...    »
 
Journal title abbreviation:
EMBO Mol Med 
Year:
2017 
Journal volume:
Journal issue:
Pages contribution:
859-868 
Language:
eng 
Print-ISSN:
1757-4676 
TUM Institution:
Klinik und Poliklinik für Psychiatrie und Psychotherapie