List of works - Janine Kirby

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

scientific article published on 15 May 2013

Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2

scientific article published on 29 June 2021

Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways

scientific article published on 9 December 2002

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

scientific article published on 6 May 2015

Brain iron dysregulation and the risk of ageing white matter lesions

scientific article published on 7 October 2011

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

scientific article published on 17 September 2009

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

scientific article published on 27 May 2015

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

scientific article published on 24 July 2013

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

scientific article published on 09 October 2013

Clinical features of hereditary spastic paraplegia due to spastin mutation

scientific article published on 01 July 2006

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

scientific article published on March 2012

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis

scientific article

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

scientific article published on 20 October 2012

Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease

scientific article published on August 2002

Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis

scientific article

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

scientific article

Gene expression assays

scientific article

Gene expression profiling in human neurodegenerative disease

scientific article published on 14 August 2012

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain

scientific article published on 21 February 2011

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

scientific article published on 01 May 2008

Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen

scientific article

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

scientific article published in December 2014

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics

scientific article published on 17 December 2013

Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

scientific article

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation

scientific article published on August 2013

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

scientific article

Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis

scientific article published on 15 October 2015

MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS

scientific article published on 01 May 2007

Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

scientific article

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

scientific article

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis ⬇️

scientific article published on November 1, 2011

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

scientific article published on 11 June 2015

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

article

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS.

scientific article

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

scientific article

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

scientific article

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

scientific article

Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis

scientific article published on 09 September 2019

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

scientific article published on 26 November 2008

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

article

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

scientific article published in April 2010

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

scientific article published on 24 August 2015

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

scientific article published in May 2007

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

scientific article

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

scientific article published on September 2016

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

scientific article

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis

scientific article

Screening of the regulatory and coding regions of vascular endothelial growth factor in amyotrophic lateral sclerosis

scientific article published on 18 March 2005

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

scientific article

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

scientific article

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

scientific article published on 19 February 2015

TDP43 proteinopathy is associated with aberrant DNA methylation in human Amyotrophic Lateral Sclerosis

scientific article published on 04 May 2020

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

scientific article published on 19 January 2014

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

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

scientific article published on April 2015

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

scientific article

Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS

scientific article published on 01 April 2009

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

scientific article

List of works by Janine Kirby

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2

Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

Brain iron dysregulation and the risk of ageing white matter lesions

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

Clinical features of hereditary spastic paraplegia due to spastin mutation

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

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease

Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis

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

Gene expression assays

Gene expression profiling in human neurodegenerative disease

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics

Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis

MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS

Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis ⬇️

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

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

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis

Screening of the regulatory and coding regions of vascular endothelial growth factor in amyotrophic lateral sclerosis

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

TDP43 proteinopathy is associated with aberrant DNA methylation in human Amyotrophic Lateral Sclerosis

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

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

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity