High prevalence of focal and multi-focal somatic genetic variants in the human brain

بواسطة Keogh, Michael J., Wei, Wei, Aryaman, Juvid, Walker, Lauren, van den Ameele, Jelle, Coxhead, Jon, Wilson, Ian, Bashton, Matthew, Beck, Jon, West, John, Chen, Richard, Haudenschild, Christian, Bartha, Gabor, Luo, Shujun, Morris, Chris M., Jones, Nick S., Attems, Johannes, Chinnery, Patrick F.
الحاوية / القاعدة Nat Commun (2018)

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

بواسطة Keogh, Michael J., Wei, Wei, Wilson, Ian, Coxhead, Jon, Ryan, Sarah, Rollinson, Sara, Griffin, Helen, Kurzawa-Akanbi, Marzena, Santibanez-Koref, Mauro, Talbot, Kevin, Turner, Martin R., McKenzie, Chris-Anne, Troakes, Claire, Attems, Johannes, Smith, Colin, Al Sarraj, Safa, Morris, Chris M., Ansorge, Olaf, Pickering-Brown, Stuart, Ironside, James W., Chinnery, Patrick F.
الحاوية / القاعدة Genome Res (2017)

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

بواسطة Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L., Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L., Alston, Charlotte L., Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H., Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R., Jaiser, Stephan R., Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M., Turnbull, Douglass M., Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F.
منشور في 2014