机译:全基因组测序揭示了编码非致病性变异体,该变异体标记了C9orf72中的非编码致病性六核苷酸重复扩增,作为肌萎缩性侧索硬化的原因
1Department of Neurology, 2Department of Experimental Neurology and 3Laboratory for Molecular Diagnostics, Center for Human Genetics, University of Leuven, Leuven, Belgium, 4Leuven Institute for Neurodegenerative Disorders (LIND), Leuven, Belgium, 5Vesalius Research Center, VIB, Leuven, Belgium, 6Vesalius Research Center, KU Leuven, Leuven, Belgium, 7Department of Pathology and 8Department of Neurology, Donders Center for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands and 9Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands;
机译:全基因组测序揭示了编码非致病性变异体,该变异体标记了C9orf72中的非编码致病性六核苷酸重复扩增,作为肌萎缩性侧索硬化的原因
机译:携带致病性GGGGCC六核苷酸重复扩增C9ORF72的家族性肌萎缩性侧索硬化患者的临床特征
机译:携带致病性GGGGCC六核苷酸重复扩增C9ORF72的家族性肌萎缩性侧索硬化患者的临床特征
机译:具有串联质量标签的肌营养横向硬化肺组织连接细胞应激响应的定量蛋白质组学分析
机译:在额颞痴呆和肌萎缩性侧索硬化中(GGGGCC)c9orf72六核苷酸重复扩展的转录抑制。
机译:全基因组测序揭示了编码非致病性变异体该变异体标记了C9orf72中的非编码致病性六核苷酸重复扩增作为肌萎缩性侧索硬化的原因
机译:全基因组测序揭示了编码非致病性变异体,该变异体标记了C9orf72中的非编码致病性六核苷酸重复序列扩增,作为肌萎缩性侧索硬化的原因