Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains

Journal of Neurology, Neurosurgery & Psychiatry

Fecha de publicación: January 2018

DOI: http://dx.doi.org/10.1136/jnnp-2017-317234

AutoresMichael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, Nick Jones, James W Ironside, Patrick F Chinnery.

Background: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series.


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