De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

导出 LinkOut

翻译打印收藏纠错

第一作者： Annemarie,Hübers

第一单位： Department of Neurology, University Hospital of Ulm, Ulm, Germany. Electronic address: annemarie.huebers@uni-ulm.de.

作者： Annemarie,Hübers ^[1] ; Walter,Just ^[2] ; Angela,Rosenbohm ^[3] ; Kathrin,Müller ^[3] ; Nicolai,Marroquin ^[2] ; Ingrid,Goebel ^[4] ; Josef,Högel ^[2] ; Holger,Thiele ^[5] ; Janine,Altmüller ^[6] ; Peter,Nürnberg ^[7] ; Jochen H,Weishaupt ^[3] ; Christian,Kubisch ^[4] ; Albert C,Ludolph ^[3] ; Alexander E,Volk ^[8]

作者单位： Department of Neurology, University Hospital of Ulm, Ulm, Germany. Electronic address: annemarie.huebers@uni-ulm.de. ^[1] Institute of Human Genetics, University of Ulm, Ulm, Germany. ^[2] Department of Neurology, University Hospital of Ulm, Ulm, Germany. ^[3] Institute of Human Genetics, University of Ulm, Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[4] Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. ^[5] Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany. ^[6] Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany. ^[7] Institute of Human Genetics, University of Ulm, Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: a.volk@uke.de. ^[8]

关键词 Amyotrophic lateral sclerosis (ALS)De novo mutation Early onset Fused in sarcoma (FUS)Genetic testing