PMC Links for OMIM (Select 609512) - PMC

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Items: 2

Select item 28653751.

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Hazel Urwin, Astrid Authier, Jorgen E. Nielsen, Daniel Metcalf, Caroline Powell, Kristina Froud, Denise S. Malcolm, Ida Holm, Peter Johannsen, Jeremy Brown, Elizabeth M.C. Fisher, Julie van der Zee, Marc Bruyland, the FReJA Consortium, Christine Van Broeckhoven, John Collinge, Sebastian Brandner, Clare Futter, Adrian M. Isaacs

Hum Mol Genet. 2010 Jun 1; 19(11): 2228–2238. Published online 2010 Mar 10. doi: 10.1093/hmg/ddq100

PMCID:: PMC2865375

Abstract Article PDF–12M

Select item 28444262.

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

Laura E. Cox, Laura Ferraiuolo, Emily F. Goodall, Paul R. Heath, Adrian Higginbottom, Heather Mortiboys, Hannah C. Hollinger, Judith A. Hartley, Alice Brockington, Christine E. Burness, Karen E. Morrison, Stephen B. Wharton, Andrew J. Grierson, Paul G. Ince, Janine Kirby, Pamela J. Shaw

PLoS One. 2010; 5(3): e9872. Published online 2010 Mar 24. doi: 10.1371/journal.pone.0009872