Browsing by Author "Mc Laughlin, Russell"
Now showing items 1-13 of 13
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Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
Rooney, James; Hardiman, Orla; Mc Laughlin, Russell (American Medical Association, 2016)Importance: Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disorder with a poor prognosis and a median survival of 3 years. However, a significant proportion of patients survive more ... -
Detection of long repeat expansions from PCR-free whole-genome sequence data
Mc Laughlin, Russell; Hardiman, Orla (2017)Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) andfragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution ... -
Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016
Hardiman, Orla; Mc Laughlin, Russell; Pender, Niall (2018)Objective: To assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment. Methods: Population-based data collected ... -
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
Mc Laughlin, Russell; Corvin, Aiden; Hardiman, Orla; Bradley, Daniel (2017)We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the ... -
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Hardiman, Orla; Mc Laughlin, Russell (Elsevier, 2018)To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant ... -
Insular Celtic population structure and genomic footprints of migration
Mc Laughlin, Russell; Hardiman, Orla; Bradley, Daniel; Cassidy, Lara (2018) -
Mismatch Negativity as an Indicator of Cognitive Sub-Domain Dysfunction in Amyotrophic Lateral Sclerosis
Bede, Peter; Mc Laughlin, Russell; Nasseroleslami, Bahman; Lalor, Edmund; Hardiman, Orla (2017)Objective: To evaluate the utility of mismatch negativity (MMN), a neurophysiologic marker of non-motor cognitive processing, in amyotrophic lateral sclerosis (ALS). Methods: 89 patients, stratified into 4 different ... -
The multistep hypothesis of ALS revisited
Hardiman, Orla; Mc Laughlin, Russell (Wolters Kluwer Health, 2018)Objective: Amyotrophic lateral sclerosis (ALS) incidence rates are consistent with the hypothesis that ALS is a multistep process. We tested the hypothesis that carrying a large effect mutation might account for≥1 steps ... -
The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods
Mc Laughlin, Russell; Bradley, Daniel; Cassidy, Lara (2017)We analyse new genomic data (0.05–2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200–3500 BC) to the Middle Bronze Age (1740–1430 BC) and impute genomewide diploid genotypes in ... -
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
Hardiman, Orla; Mc Laughlin, Russell (Springer Nature, 2018)The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun ... -
Reconsidering the causality of TIA1 mutations in ALS
Mc Laughlin, Russell; Hardiman, Orla (2018)T-cell-restricted intracellular antigen-1 (TIA1) has been recently reported as a novel amyotrophic lateral sclerosis (ALS) related gene, and has already been adopted in a resource frequently used in ... -
Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype
Hardiman, Orla; Mc Laughlin, Russell (2017) -
Upper Palaeolithic genomes reveal deep roots of modern Eurasians.
Bradley, Daniel; Mc Laughlin, Russell; Cassidy, Lara (2015)We extend the scope of European palaeogenomics by sequencing the genomes of Late Upper Palaeolithic (13,300 years old, 1.4-fold coverage) and Mesolithic (9,700 years old, 15.4-fold) males from western Georgia in the Caucasus ...