[1] Brown RH Jr, Al-Chalabi A.Amyotrophic Lateral Sclerosis[J]. N Engl J Med,2017,377(16):1602. [2] Turner MR, Hardiman O, Benatar M, et al.Controversies and priorities in amyotrophic lateral sclerosis[J]. Lancet Neurol,2013,12(3):310-322. [3] Al-Chalabi A, van den Berg LH, Veldink J. Gene disco-very in amyotrophic lateral sclerosis: implications for clinical management[J]. Nat Rev Neurol,2017,13(2):96-104. [4] Lill CM, Bertram L.Towards unveiling the genetics of neurodegenerative diseases[J]. Semin Neurol,2011,31(5):531-541. [5] 李晓光, 邹漳钰, 彭郁, 等. 肌萎缩侧索硬化的分子遗传学[J]. 协和医学杂志,2012,3(3):337-343. [6] Ajroud-Driss S, Siddique T.Sporadic and hereditary amyotrophic lateral sclerosis (ALS)[J]. Biochim Biophys Acta,2015,1852(4):679-684. [7] 李晓光, 张莉红, 谢曼青, 等. 中国家族性肌萎缩侧索硬化SOD1基因突变分析[J]. 中华神经科杂志,2010, 43(10):686-691. [8] Osmanovic A, Rangnau I, Kosfeld A, et al.FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study[J]. Eur J Hum Genet,2017,25(3):324-331. [9] Andersen PM, Al-Chalabi A.Clinical genetics of amyo-trophic lateral sclerosis: what do we really know?[J]. Nat Rev Neurol,2011,7(11):603-615. [10] Renton AE, Chiò A, Traynor BJ.State of play in amyo-trophic lateral sclerosis genetics[J]. Nat Neurosci,2014, 17(1):17-23. [11] Klemann CJHM, Visser JE, Van Den Bosch L, et al. Integrated molecular landscape of amyotrophic lateral sclerosis provides insights into disease etiology[J]. Brain Pathol,2018,28(2):203-211. [12] Morgan S, Shoai M, Fratta P, et al.Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis[J]. Neurobiol Aging,2015, 36(3):1600. [13] Kenna KP, McLaughlin RL, Byrne S, et al. Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing[J]. J Med Genet,2013,50(11):776-783. |