Article
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.
Acta neuropathologica - 1 Apr 2013
Dobson-Stone Carol, Luty Agnes A, Thompson Elizabeth M, Blumbergs Peter, Brooks William S, Short Cathy L, Field Colin D, Panegyres Peter K, Hecker Jane, Solski Jennifer A, Blair Ian P, Fullerton Janice M, Halliday Glenda M, Schofield Peter R, Kwok John B J
Abstract excerpt
Numerous families exhibiting both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have been described, and although many of these have been shown to harbour a repeat expansion in C9ORF72, several C9ORF72-negative FTD-ALS families remain. We performed neuropathological and ge...
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