Browsing Clinical Medicine (Scholarly Publications) by Author "Mc Laughlin, Russell"
Now showing items 1-10 of 10
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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 ... -
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 ... -
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)