Type

Journal Article

Authors

Orla Hardiman
Daniel G Bradley
Susan Byrne
Alice Vajda
Kevin Patrick Kenna
Russell Lewis McLaughlin

Subjects

Psychiatry

Topics
families irish population ireland gene patients transmission male amyotrophic lateral sclerosis

UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland. (2013)

Abstract Mutations in UBQLN2 have been shown to be a cause of dominant X-linked amyotrophic lateral sclerosis (ALS). Occurrences of mutations in this gene vary across ALS populations. We screened UBQLN2 for mutations in a final cohort of 150 Irish ALS patients. Individuals who were from families with male-to-male transmission or who carried pathogenic hexanucleotide repeat expansions in C9orf72 were excluded. Apart from common synonymous variation, no sequence variants in UBQLN2 were observed. Mutations in UBQLN2 are therefore not a frequent cause of ALS in the Irish population.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Orla Hardiman, Daniel G Bradley, Susan Byrne, Alice Vajda, Kevin Patrick Kenna, Russell Lewis McLaughlin

Experts in our system

1
Orla Hardiman
Trinity College Dublin
Total Publications: 156
 
2
Daniel Bradley
Trinity College Dublin
Total Publications: 84
 
3
Susan Byrne
Trinity College Dublin
Total Publications: 18
 
4
Alice Vajda
Trinity College Dublin
Total Publications: 29
 
5
Kevin P Kenna
Trinity College Dublin
Total Publications: 14
 
6
Russell L McLaughlin
Trinity College Dublin
Total Publications: 41