List of works - Bradley N. Smith

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

scientific article published on 01 October 2018

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

scientific article published on 9 October 2015

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

scientific article published on 25 June 2018

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

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

scientific article

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

scientific article published on 19 May 2017

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

scientific article

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

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 studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.

scientific article published on 18 January 2013

Association study on glutathione S-transferase omega 1 and 2 and familial ALS.

scientific article

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

article

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

scientific article

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

scientific article published on 5 July 2016

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

scientific article published on 13 September 2017

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

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

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

article

Cognitive-behaviour therapy for post-traumatic stress in schizophrenia. A randomized controlled trial.

scientific article published on 21 September 2016

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

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

scientific article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

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

scientific article published on 22 October 2014

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

scientific article

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

scientific article published on 22 February 2006

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

scientific article published on 18 December 2014

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

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Hair analysis for drugs: technological break-through or ethical quagmire?

scientific article published in February 1993

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

scientific article

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

scientific article published on 23 March 2009

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

scientific article published on 28 September 2012

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

scientific article published on 4 April 2017

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

scientific article

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

scientific article published on 12 April 2013

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

scientific article published on 25 February 2016

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

scientific article published on 11 August 2012

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

scholarly article by Soragia Athina Gkazi et al published 24 August 2018 in Neurobiology of Aging

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

scientific article published on 28 January 2022

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

scientific article published on 13 July 2015

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

scientific article published on 17 January 2015

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

scientific article published on 30 September 2018

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

scientific article published on 19 November 2011

List of works by Bradley N. Smith

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

ATXN2 trinucleotide repeat length correlates with risk of ALS.

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

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

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

Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.

Association study on glutathione S-transferase omega 1 and 2 and familial ALS.

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

Cognitive-behaviour therapy for post-traumatic stress in schizophrenia. A randomized controlled trial.

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

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

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Hair analysis for drugs: technological break-through or ethical quagmire?

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

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

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS