List of works - Fleur C Garton

Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way

scientific article published on September 1, 2013

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

scientific article published on 16 September 2013

Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles.

scientific article

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

scientific article published on 02 May 2011

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

scientific article

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

scientific article published on 12 July 2017

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

scientific article published on 29 January 2016

alpha-actinin-3 and performance

scientific article published on 17 August 2009

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

scientific article published on 20 September 2017

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

scientific article published on 3 January 2018

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

scientific article

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

scientific journal article

Rodent models for resolving extremes of exercise and health

scientific article published on 22 September 2015

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

scientific article published on 17 July 2010

NF1 is a critical regulator of muscle development and metabolism

scientific article

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

scientific article published on 17 December 2015

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

scientific article published on 17 November 2017

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

scientific article

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance

scientific article published on March 1, 2016

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

scientific article published on 26 April 2018

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

scholarly article

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

preprint

Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis

scientific article published on 17 April 2018

ALS in Danish Registries: Heritability and links to psychiatric and cardiovascular disorders

scientific article published on 20 February 2020

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis

scientific article published on 24 September 2020

Genomic and Functional studies identify RPSA as a risk gene for ALS and other neurological diseases

Cardiovascular disease, psychiatric diagnosis and sex-differences in the multi-step hypothesis of ALS

scientific article published on 25 September 2020

Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

A Blood Transcriptomic Resource for ALS Highlights Disease-Associated Signatures and Alternative Splicing Events

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

scientific article published on 26 March 2021

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

scientific article published on 19 January 2022

List of works by Fleur C Garton

Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles.

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

alpha-actinin-3 and performance

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

Rodent models for resolving extremes of exercise and health

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

NF1 is a critical regulator of muscle development and metabolism

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

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

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

Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis

ALS in Danish Registries: Heritability and links to psychiatric and cardiovascular disorders

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis

Genomic and Functional studies identify RPSA as a risk gene for ALS and other neurological diseases

Cardiovascular disease, psychiatric diagnosis and sex-differences in the multi-step hypothesis of ALS

Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

A Blood Transcriptomic Resource for ALS Highlights Disease-Associated Signatures and Alternative Splicing Events

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Arylamine N-acetyltransferase-1 reveals a subpopulation of ALS patients with altered metabolic capacity