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A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis

Freischmidt, Axel ; Goswami, Anand ; Limm, Katharina ; Zimyanin, Vitaly L. ; Demestre, Maria ; Glaß, Hannes ; Holzmann, Karlheinz ; Helferich, Anika M. ; Brockmann, Sarah J. ; Tripathi, Priyanka ; Yamoah, Alfred ; Poser, Ina ; Oefner, Peter J. ; Böckers, Tobias M. ; Aronica, Eleonora ; Ludolph, Albert C. ; Andersen, Peter M. ; Hermann, Andreas ; Weis, Joachim ; Reinders, Jörg ; Danzer, Karin M. ; Weishaupt, Jochen H.



Abstract

Knowledge about converging disease mechanisms in the heterogeneous syndrome amyotrophic lateral sclerosis (ALS) is rare, but may lead to therapies effective in most ALS cases. Previously, we identified serum microRNAs downregulated in familial ALS, the majority of sporadic ALS patients, but also in presymptomatic mutation carriers. A 5-nucleotide sequence motif (GDCGG; D = G, A or U) was strongly ...

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