Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
C Hewitt, J Kirby, JR Highley, JA Hartley… - Archives of …, 2010 - jamanetwork.com
Objective To determine the frequency of and clinicopathologic phenotypes associated
withFUS/TLSmutations in a large cohort of amyotrophic lateral sclerosis (ALS) cases from
the north of England. Design Genetic screening project with neuropathologic examination of
postmortem tissue in selected cases. The clinical details of selected cases are also
presented. Setting Neurology departments of 2 university teaching hospitals in the north of
England. Participants The 15 exons ofFUS/TLSwere sequenced in an initial cohort of 42 …
withFUS/TLSmutations in a large cohort of amyotrophic lateral sclerosis (ALS) cases from
the north of England. Design Genetic screening project with neuropathologic examination of
postmortem tissue in selected cases. The clinical details of selected cases are also
presented. Setting Neurology departments of 2 university teaching hospitals in the north of
England. Participants The 15 exons ofFUS/TLSwere sequenced in an initial cohort of 42 …
