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List of works by Bryan Traynor

?True? sporadic ALS associated with a novel SOD-1 mutation

article by Michael D. Alexander et al published 24 October 2002 in Annals of Neurology

A candidate gene for autoimmune myasthenia gravis ⬇️

scientific article published on June 27, 2012

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

scientific article published on October 2008

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis

scientific article

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

scientific article

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A genome-wide association study of myasthenia gravis

scientific article published on April 2015

A genome-wide association study of sporadic ALS in a homogenous Irish population

scientific article published on 5 December 2007

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

scientific article

A roadmap for genetic testing in ALS ⬇️

scientific article published on July 18, 2013

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

scientific article

APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis

scientific article

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

scientific article published on 8 December 2015

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

scientific article published on 25 June 2015

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

scientific article

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

scientific article

Age-associated changes in gene expression in human brain and isolated neurons

scientific article

Age-related penetrance of the C9orf72 repeat expansion

scientific article

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

scientific article published on 18 January 2018

Amyotrophic lateral sclerosis and soccer: A different epidemiological approach strengthen the previous findings

scientific article published on 08 November 2007

Amyotrophic lateral sclerosis, physical exercise, trauma and sports: results of a population-based pilot case-control study

scientific article

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

scientific article published on August 2010

Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery

scientific article

An outcome study of riluzole in amyotrophic lateral sclerosis--a population-based study in Ireland, 1996-2000.

scientific article published in April 2003

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

scientific article

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

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

scientific article published on 31 May 2016

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

scientific article

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism ⬇️

scientific article published on July 1, 2012

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

scientific article

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

scientific article

C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis

scientific article published on 02 November 2020

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

scientific article

C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder

scientific article

C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition

scientific article published on 11 March 2019

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

scientific article

CRESTing the ALS mountain

scientific article

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

scientific article

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry

scientific article

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration

scientific article published on 20 August 2013

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

scientific article published on March 2012

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

scientific article published on March 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

Common genetic variants influence human subcortical brain structures

scientific article

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study

scientific article published on 25 March 2017

Controversies and priorities in amyotrophic lateral sclerosis

scientific article

Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype

scientific article published on 21 January 2016

Current and future directions in genomics of amyotrophic lateral sclerosis

scientific article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

scientific article published on 27 December 2013

Dementia Research-A Roadmap for the Next Decade

scientific article published on 12 December 2016

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

scientific article

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

scientific article

Disease progression in C9orf72 mutation carriers

scientific article published on 14 June 2017

Distinct DNA methylation changes highly correlated with chronological age in the human brain

scientific article

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

scientific article published on 01 March 2020

Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis

scientific article published on May 2007

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America

scientific article published on 18 September 2020

Ethnic variation in the incidence of ALS: a systematic review

scientific article published on March 2007

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy

scientific article published on 31 December 2016

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

scientific article

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Exome sequencing reveals VCP mutations as a cause of familial ALS

scientific article

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

scientific article

Exploring the epigenetics of Alzheimer disease

scientific article published in January 2015

Extensive genetics of ALS: a population-based study in Italy

scientific article

FUS mutations in sporadic amyotrophic lateral sclerosis

scientific article

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

scientific article

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Frontal temporal dementia: dissecting the aetiology and pathogenesis

scientific article published in April 2006

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics

scientific article published on 29 November 2013

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

scientific article

Gene-Environment-Time Interactions in Neurodegenerative Diseases: Hypotheses and Research Approaches

scientific article published on 04 December 2018

Genetic architecture of ALS in Sardinia

scientific article

Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges

scientific article

Genetic comorbidities in Parkinson's disease

scientific article published on 20 September 2013

Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort

scientific article published on 20 November 2017

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

scientific article published on 16 December 2007

Genetics. For complex disease genetics, collaboration drives progress

scientific article published in March 2015

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis

scientific article

Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis

scientific article

Genome-wide association studies and ALS: are we there yet?

scientific article published on 01 October 2007

Genome-wide association study of neocortical Lewy-related pathology

scientific article

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Genotype, haplotype and copy-number variation in worldwide human populations

scientific article (publication date: 21 February 2008)

GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia

scientific article published on 26 August 2013

HFE p.H63D polymorphism does not influence ALS phenotype and survival

scientific article published on 18 June 2015

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

scientific article

High BMI is associated with low ALS risk: What does it mean?

scientific article published on 26 June 2019

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype

scientific article published on 27 December 2017

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

scientific article

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

scientific article published on 19 October 2020

Incidence of amyotrophic lateral sclerosis in Europe

scientific article

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

scientific article

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

scientific article

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

scientific article

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

scientific article

Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype

scientific article published on 22 October 2016

Melatonin receptor type 1A gene linked to Alzheimer's disease in old age

scientific article published on 01 July 2018

Mendelian Randomization-A Journey From Obscurity to Center Stage With a Few Potholes Along the Way

scientific article published on 14 October 2019

Models of care for motor neuron disease: setting standards

scientific article

Motor neuron disease in 2014. Biomarkers for ALS--in search of the Promised Land

scientific article published on 23 December 2014

Mutation analysis of CHCHD10 in different neurodegenerative diseases

scientific article published on 31 March 2015

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

scientific article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

scientific article

Mutational analysis of known ALS genes in an Italian population-based cohort

scientific article published on 18 November 2020

Mutational analysis of the VCP gene in Parkinson's disease

scientific article published on 13 September 2011

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

scientific article published on 26 September 2014

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

Nature versus Nurture: Death of a Dogma, and the Road Ahead ⬇️

scientific article published on October 21, 2010

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

scientific article

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

scientific article

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

scientific article

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

scientific article published on 16 November 2017

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

scientific article published on 6 January 2016

Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation

scientific article published on 23 April 2019

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 26 November 2020

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

scientific article

Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

scientific article published on 11 August 2016

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 01 February 2020

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

scientific article published on 16 October 2013

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

scientific article published on 05 October 2019

Repeat expansion in C9ORF72 in Alzheimer's disease

scientific article

Road to the chromosome 9p-linked ALS/FTD locus ⬇️

scientific article published on April 1, 2012

SNCA variants are associated with increased risk for multiple system atrophy

scientific article

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

scientific article

Screening for C9orf72 repeat expansions in parkinsonian syndromes ⬇️

scientific article published on October 11, 2012

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion

scientific article

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

scientific article

Special Issue on amyotrophic lateral sclerosis.

scientific article

State of play in amyotrophic lateral sclerosis genetics

scientific article

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

scientific article published on 9 April 2016

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

scientific article

Tdp-43 cryptic exons are highly variable between cell types

scientific article published on 02 February 2017

The NGS technology for the identification of genes associated with the ALS. A systematic review

scientific article published on 15 April 2020

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

scientific article published on 05 February 2020

The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.

scientific article published on 6 July 2015

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

scientific article

The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials

scientific article

The epidemiology of ALS and the role of population-based registries

scientific article published on 29 September 2006

The era of genomic epidemiology

scientific article

The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure

scientific article published on January 2007

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

scientific article published on 21 January 2014

The neurology of varicella-zoster virus: a historical perspective

scientific article published in December 2004

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

scientific article published on 2 April 2013

To Dement or Not to Dement, That Is the Question

scientific article published on 22 February 2016

Towards a complete resolution of the genetic architecture of disease

scientific article

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

scientific article published on 4 December 2017

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

scientific article published on 17 May 2009

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

scientific article

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

scientific article published on 12 February 2009

Use of Genetic Testing in Amyotrophic Lateral Sclerosis by Neurologists

scientific article published on 01 January 2017

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

scientific article

What's the FUS!

scientific article published in May 2009

[An] enumeration shall be made…

scientific article published on 04 September 2015

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