References
- He J, Mangelsdorf M, Fan D, Bartlett P, Brown MA. Amyotrophic lateral sclerosis genetic studies: from genome-wide association mapping to genome sequencing. Neuroscientist. Published online before print Nov. 5, 2014:1–17.
- Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010;465:223–6.
- Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, et al. Optineurin mutations in Japanese amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2012;83:233–5.
- Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, et al. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. Neurobiol Aging. 2012;33:1843.e19–24.
- Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, et al. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiol Aging. 2011;32:555.e13–4.
- Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, et al. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2011;82:1239–43.
- Johnson L, Miller JW, Gkazi AS, Vance C, Topp SD, Newhouse SJ, et al. Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients. Neurobiol Aging. 2012;33:2948.e15–7.
- Lattante S, Conte A, Zollino M, Luigetti M, Del Grande A, Marangi G, et al. Contribution of major amyotrophic lateral sclerosis genes to the aetiology of sporadic disease. Neurology. 2012;79:66–72.
- Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, et al. Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiol Aging. 2011;32:557.e11–3.
- Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, et al. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging. 2015;36:1764.e9–1764.e18.
- Solski JA, Williams KL, Yang S, Nicholson GA, Blair IP. Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33:210.e9–10.
- Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Grønskov K, et al. Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. Neurobiol Aging. 2012;33:e1–5.
- van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, et al. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging. 2012;33:1016.e1–7.
- Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, et al. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany. Neurobiol Aging. 2013;34:1516.e9–1516.
- Kwon MJ, Baek W, Ki CS, Kim HY, Koh SH, Kim JW, et al. Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging. 2012;33:1017.e17–23.
- Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, et al. Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2014;35:2423.e1–6.
- Chen L, Zhang B, Chen R, Tang L, Liu R, Yang Y, et al. Natural history and clinical features of sporadic amyotrophic lateral sclerosis in China. J Neurol Neurosurg Psychiatry. Published online first 29 June 2015.
- He J, Tang L, Benyamin B, Shah S, Hemani G, Liu R, et al., C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiol Aging. Avaiable online 9 June 2015.
- Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis Amyotroph Lateral Scler. 2000;1:293–9.
- Kachaner D, Génin P, Laplantine E, Weil R. Toward an integrative view of optineurin functions. Cell Cycle. 2012;11:2808–18.
- Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077–9.
- Gleason CE, Ordureau A, Gourlay R, Arthur JS, Cohen P. Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β. J Biol Chem. 2011;286:35663–74.
- Sakaguchi T, Irie T, Kawabata R, Yoshida A, Maruyama H, Kawakami H. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation. Neurosci Lett. 2011;505:279–81.