Article
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.
Neurobiology of aging - 1 Jan 2017
Scotter Emma L, Smyth Leon, Bailey J Ames W T, Wong Chun-Hao, de Majo Martina, Vance Caroline A, Synek Beth J, Turner Clinton, Pereira Jennifer, Charleston Alison, Waldvogel Henry J, Curtis Maurice A, Dragunow Mike, Shaw Christopher E, Smith Bradley N, Faull Richard L M
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, which causes progressive and eventually fatal loss of motor function. Here, we describe genetic and pathologic characterization of brain tissue banked from 19 ALS patients over nearly 20 years at the Department of Anatomy and the Centre for Brain Research, University of Auckland, New Zealand. We screened for mutations in SOD1, TARDBP,...
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