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List of works by Russell McLaughlin

A Cross-sectional population-based investigation into behavioral change in amyotrophic lateral sclerosis: subphenotypes, staging, cognitive predictors, and survival

scientific article published on 11 April 2017

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

scientific article

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family

scientific article published on 28 September 2014

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 September 2013

Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample

scientific article

Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis

scientific article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

scientific article published in October 2021

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

Basal ganglia involvement in amyotrophic lateral sclerosis

scientific article

Brainstem pathology in amyotrophic lateral sclerosis and primary lateral sclerosis: A longitudinal neuroimaging study

scientific article published on 24 October 2019

C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

scientific article published on 23 September 2016

Characteristic Increases in EEG Connectivity Correlate With Changes of Structural MRI in Amyotrophic Lateral Sclerosis.

scientific article published on 9 November 2017

Clustering of Neuropsychiatric Disease in First-Degree and Second-Degree Relatives of Patients With Amyotrophic Lateral Sclerosis

scientific article published on 16 October 2017

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

scientific article published on 3 February 2012

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study.

scientific article published on 8 February 2018

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

scientific article published on 17 December 2020

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

scientific article published on 23 July 2013

Detection of long repeat expansions from PCR-free whole-genome sequence data

scientific article

Detection of novel germline mutations for breast cancer in non-BRCA1/2 families

scientific article published on 20 June 2015

Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016.

scientific article

Dutch population structure across space, time and GWAS design

scientific article published on 11 September 2020

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

scientific article published on 21 March 2017

Genetic testing in ALS: A survey of current practices

scientific article

Genome flux and stasis in a five millennium transect of European prehistory

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

scientific article

Genomic signals of migration and continuity in Britain before the Anglo-Saxons

scientific article published on 19 January 2016

Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality

scientific article

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Heritability of Amyotrophic Lateral Sclerosis

scientific article published on 01 August 2015

Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci

scientific article published on 23 January 2015

Insular Celtic population structure and genomic footprints of migration.

scientific article

Mapping cortical disease-burden at individual-level in frontotemporal dementia: implications for clinical care and pharmacological trials

scientific article published on 09 December 2021

Mismatch Negativity as an Indicator of Cognitive Sub-Domain Dysfunction in Amyotrophic Lateral Sclerosis

scientific article published on 15 August 2017

Multiparametric MRI study of ALS stratified for the C9orf72 genotype

scientific article published on 14 June 2013

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study

scientific article published on 31 May 2017

No association between soil constituents and amyotrophic lateral sclerosis relative risk in Ireland

scientific article published on 4 February 2016

Patterns of cerebral and cerebellar white matter degeneration in ALS.

scientific article published on 21 July 2014

Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis

scientific article published on 03 February 2020

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Proposed criteria for familial amyotrophic lateral sclerosis

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

scientific article

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

Second-generation Irish genome-wide association study for amyotrophic lateral sclerosis

scientific article published on 6 September 2014

Social deprivation and population density are not associated with small area risk of amyotrophic lateral sclerosis

scientific article

Spatial cluster analysis of population amyotrophic lateral sclerosis risk in Ireland

scientific article published on 13 March 2015

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The clinical and radiological profile of primary lateral sclerosis: a population-based study

scientific article published on 19 July 2019

The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods

scientific article

The selective anatomical vulnerability of ALS: ‘disease-defining’ and ‘disease-defying’ brain regions

UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland

scientific article published on 21 August 2013

Upper Palaeolithic genomes reveal deep roots of modern Eurasians

scientific article (publication date: 16 November 2015)

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants

scientific article published on 26 March 2013

Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling

scientific article published on 12 November 2019

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