• Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Pro264Leu (c.791C>T); ClinVar=VCV000098080; Zygosity=Unspecified (PubMed=22952635).
  

PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297
Selina Wray, Matthew Self, Patrick A. Lewis, Jan-Willem Taanman, Natalie S. Ryan, Colin J. Mahoney, Yu-Ying Liang, Michael J. Devine, Una-Marie Sheerin, Henry Houlden, Huw R. Morris ...Show all 46 authors... , Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A. Corriveau, Michael D'Andrea, Anthony Henry Vernon Schapira, Ryan J. Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J. Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F. Boeve, Kevin Boylan, Alexander Jon Stoessl, Owen A. Ross, Nicholas John Maragakis, Jay Arthur Van Gerpen, Melissa Gerstenhaber, Katrina Ann Gwinn-Hardy, Ted Murray Dawson, Ole Isacson, Karen S. Marder, Lorraine N. Clark, Serge E. Przedborski, Steven Finkbeiner, Jeffrey D. Rothstein, Zbigniew Kudzin Wszolek, Martin Neil Rossor, John Hardy; Show fewer authors
NINDS ALS iPSC Consortium
NINDS Huntington's Disease iPSC Consortium
NINDS Parkinson's Disease iPSC Consortium
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:e43099.1-e43099.8(2012)