机译:DNMT1突变导致常染色体显性遗传性小脑共济失调,耳聋和发作性睡病
1Institute of Human Genetics and 2Department of Neurology, Technische Universität München, Munich 81675, Germany, 3Institute of Human Genetics, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg 85764, Germany, 4Center for Sleep Sciences and Medicine, 5Department of Psychiatry and 6Department of Genetics, Stanford University School of Medicine, Palo Alto, CA 94304, USA, 7Danish Center for Sleep Medicine, University of Copenhagen, Glostrup Hospital, Glostrup, Denmark, 8Department of Neurological Sciences, University of Bologna/IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy, 9Department of Neuroscience, Unit of Neurology, Uppsala University, Uppsala SE-751 85, Sweden and 10IRCCS Istituto Neurologico Carlo Besta, Milano, Italy;
机译:DNMT1突变导致常染色体显性遗传性小脑共济失调,耳聋和发作性睡病
机译:由于DNA(cytosine-5-)-甲基转移酶基因DNMT1的突变,多导睡眠图和神经代谢特征可能标志着临床前常染色体显性小脑共济失调,耳聋和发作性睡病
机译:DNMT1-复杂的紊乱引起的一种与炎症和鼻炎和鼻腔(ADCA-DN)和患有痴呆和听力损失(HSN1E)的血栓性显性大脑共济失调,耳聋和鼻腔(ADCA-DN)和遗传性感官神经病变相关的新突变引起的
机译:基于地标的形状分析用于小脑共济失调分类和小脑萎缩模式的可视化
机译:调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
机译:DNMT1突变导致常染色体显性遗传性小脑共济失调耳聋和发作性睡病
机译:新型从头外显子21 DNMT1突变导致巴西患者的小脑共济失调,耳聋和发作性睡病