Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients
暂无分享,去创建一个
S. Newhouse | A. Al-Chalabi | C. Shaw | S. Topp | C. Vance | A. Gkazi | Bradley N. Smith | L. Johnson | Jack W. Miller
[1] Yusuke Nakamura,et al. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese , 2012, Neurobiology of Aging.
[2] Michelle K. Lupton,et al. The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder , 2012, European Journal of Human Genetics.
[3] J. Veldink,et al. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients , 2012, Neurobiology of Aging.
[4] Kelly L. Williams,et al. Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis , 2012, Neurobiology of Aging.
[5] Z. Tümer,et al. A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS , 2012, Neurobiology of Aging.
[6] G. Comi,et al. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis , 2011, Journal of Neurology, Neurosurgery & Psychiatry.
[7] T. Hortobágyi,et al. Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders , 2011, Acta Neuropathologica.
[8] V. Meininger,et al. Screening of OPTN in French familial amyotrophic lateral sclerosis , 2011, Neurobiology of Aging.
[9] J. Bouchard,et al. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis , 2011, Neurobiology of Aging.
[10] Yusuke Nakamura,et al. Optineurin mutations in Japanese amyotrophic lateral sclerosis , 2011, Journal of Neurology, Neurosurgery & Psychiatry.
[11] Takeo Kato,et al. Mutations of optineurin in amyotrophic lateral sclerosis , 2010, Nature.
[12] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[13] R. Ritch,et al. Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin , 2002, Science.
[14] A. Al-Chalabi,et al. Progress in the pathogenesis of amyotrophic lateral sclerosis , 2001, Current neurology and neuroscience reports.
[15] M. Haine,et al. Van Damme A. , 1986 .