Browsing by Author "MCLAUGHLIN, RUSSELL"
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Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample.
MORRIS, DEREK; BRADLEY, DANIEL; DONOHOE, GARY; GILL, MICHAEL; CORVIN, AIDEN; FAHEY, CIARA; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL (2014)The hexonucleotide repeat expansion 'GGGGCC' at the C9ORF72 gene has been strongly linked with amyotrophic lateral sclerosis and frontotemporal dementia. There is some evidence for clinical and genetic overlap between ... -
Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis
PHUKAN, JULIE; BRADLEY, DANIEL; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL; MCLAUGHLIN, RUSSELL (2010)Objective: To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. Methods: Allelic ... -
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
MORRIS, DEREK; MCLAUGHLIN, RUSSELL (2013) -
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
HARDIMAN, ORLA; CORVIN, AIDEN; MORRIS, DEREK; MCLAUGHLIN, RUSSELL; KENNY, ELAINE (2013) -
Genetic testing in ALS: A survey of current practices
MCLAUGHLIN, RUSSELL; HARDIMAN, ORLA; Vajda, Alice; Heverin, Mark; Thorpe, Owen; Abrahams, Sharon; Al-Chalabi, Ammar (2017)Objective: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. Methods: ALS researchers ... -
Genomic signals of migration and continuity in Britain before the Anglo-Saxons
BRADLEY, DANIEL; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL (2016)The purported migrations that have formed the peoples of Britain have been the focus of generations of scholarly controversy. However, this has not benefited from direct analyses of ancient genomes. Here we report nine ... -
Multiparametric MRI study of ALS stratified for the C9orf72 genotype
HARDIMAN, ORLA; PENDER, NIALL; MCLAUGHLIN, RUSSELL (2013)Objective: To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype. Methods: A prospective, single-center, single-protocol, gray and ... -
Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.
WALSH, CATHAL; BEDE, PETER; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL; WALTON, CLAIR (2011)Background The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been ...