Lista de obras - Stuart Pickering-Brown - Dominio Público Uruguay

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

artículo científico publicado en 1999

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

article

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

artículo científico publicado en 2011

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

artículo científico publicado en 2013

A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease

artículo científico publicado en 2004

A polymorphism in the angiotensin 1-converting enzyme gene is associated with damage to cerebral cortical white matter in Alzheimer's disease.

artículo científico publicado en 2004

A polymorphism within intron 11 of the tau gene is not increased in frequency in patients with sporadic Alzheimer's disease, nor does it influence the extent of tau pathology in the brain.

artículo científico publicado en 2002

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

artículo científico publicado en 2015

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Allelic variations in apolipoprotein E and prion protein genotype related to plaque formation and age of onset in sporadic Creutzfeldt-Jakob disease

scientific article published on 01 March 1995

Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease

artículo científico publicado en 2004

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

artículo científico publicado en 2001

Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotype

artículo científico publicado en 2001

An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies

artículo científico publicado en 2006

An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid beta protein deposited in Alzheimer's disease

scientific article published on 01 January 1997

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Analysis of optineurin in frontotemporal lobar degeneration.

artículo científico publicado en 2010

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2015

ApoE2 allele, Down's syndrome, and dementia

scientific article published on 01 January 1996

Apolipoprotein E allelic frequencies in patients with lobar atrophy.

artículo científico publicado en 1995

Apolipoprotein E epsilon 2 allele promotes longevity and protects patients with Down's syndrome from dementia

artículo científico publicado en 1994

Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's disease

artículo científico publicado en 2006

Apolipoprotein E epsilon4 allele has no effect on age at onset or duration of disease in cases of frontotemporal dementia with pick- or microvacuolar-type histology.

artículo científico publicado en 2000

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

article

Apolipoprotein E4 and Alzheimer's disease pathology in Lewy body disease and in other beta-amyloid-forming diseases.

artículo científico publicado en 1994

Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease

artículo científico publicado en 2004

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

artículo científico publicado en 1998

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

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

artículo científico publicado en 2014

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

artículo científico publicado en 2014

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Clinical features of dementia associated with apolipoprotein epsilon4: discrimination with a neural network genetic algorithm

artículo científico publicado en 2001

Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease

artículo científico publicado en 2006

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

scientific article published on 01 June 2001

Debrisoquine hydroxylase gene polymorphism (CYP2D6*4) in dementia with Lewy bodies

artículo científico publicado en 2003

Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis

artículo científico publicado en 1996

Detection of the interleukin 18 family in rat brain by RT-PCR

scientific article published on 01 May 2000

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

artículo científico publicado en 2013

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

artículo científico publicado en 2012

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations

artículo científico

Effect of apolipoprotein E status on clinical features of dementia

artículo científico publicado en 1998

Effect of topographical distribution of α-synuclein pathology on TDP-43 accumulation in Lewy body disease.

artículo científico publicado en 2010

Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation

artículo científico publicado en 2004

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.

artículo científico publicado en 2018

Extracellular Vesicles Isolated from Human Induced Pluripotent Stem Cell-Derived Neurons Contain a Transcriptional Network

scientific article published on 02 May 2020

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

artículo científico publicado en 2010

Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

artículo científico publicado en 2007

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

artículo científico

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

artículo científico publicado en 2012

Frequency oftau mutations in three series of non-Alzheimer's degenerative dementia

artículo científico publicado en 1999

Frontotemporal dementia and its subtypes: a genome-wide association study

artículo científico publicado en 2014

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study

artículo científico publicado en 2006

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

artículo científico publicado en 2006

Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene.

artículo científico publicado en 2004

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

artículo científico publicado en 2013

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

artículo científico publicado en 2011

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

artículo científico publicado en 2014

Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotype

artículo científico publicado en 2006

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

artículo científico publicado en 2016

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

artículo científico publicado en 2016

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

artículo científico publicado en 2021

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

artículo científico publicado en 2018

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

artículo científico publicado en 2015

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

artículo científico publicado en 2013

Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

artículo científico publicado en 2006

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene

artículo científico publicado en 2017

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

artículo científico publicado en 2017

Histone deacetylases (HDACs) in frontotemporal lobar degeneration

artículo científico publicado en 2015

Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation

artículo científico

Identification of a truncated IL-18R beta mRNA: a putative regulator of IL-18 expressed in rat brain

scientific journal article

Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis

artículo científico

Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies

artículo científico publicado en 2017

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

artículo científico

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

artículo científico publicado en 2017

Is SIGMAR1 a confirmed FTD/MND gene?

artículo científico publicado en 2015

Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation

artículo científico publicado en 2015

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size

artículo científico publicado en 2016

Molecular classification of the dementias

artículo científico publicado en 2000

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

artículo científico publicado en 2006

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

artículo científico publicado en 2006

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

artículo científico publicado en 2006

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

artículo científico publicado en 2015

Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.

artículo científico publicado en 2012

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

artículo científico publicado en 2009

No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease

artículo científico publicado en 2014

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

artículo científico publicado en 2018

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

artículo científico publicado en 2008

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Pathological correlates of frontotemporal lobar degeneration in the elderly

artículo científico publicado en 2010

Pathological relationships between microglial cell activity and tau and amyloid beta protein in patients with Alzheimer's disease

artículo científico publicado en 2002

Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy

artículo científico publicado en 2016

Patterns of microglial cell activation in frontotemporal lobar degeneration

artículo científico publicado en 2014

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

artículo científico publicado en 2007

Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsy

artículo científico publicado en 2010

Pick's disease is associated with mutations in the tau gene

artículo científico publicado en 2000

Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration

artículo científico publicado en 2014

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Preferential deposition of amyloid beta protein (Abeta) in the form Abeta40 in Alzheimer's disease is associated with a gene dosage effect of the apolipoprotein E E4 allele.

artículo científico publicado en 1997

Progranulin and frontotemporal lobar degeneration

artículo científico publicado en 2007

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia

artículo científico

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

artículo científico publicado en 2007

Progressive anomia revisited: focal degeneration associated with progranulin gene mutation

artículo científico publicado en 2007

Prominent phenotypic variability associated with mutations in Progranulin

artículo científico publicado en 2007

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

artículo científico publicado en 2012

Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion

artículo científico publicado en 2015

Psychosis, C9ORF72 and dementia with Lewy bodies

artículo científico publicado en 2012

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

artículo científico publicado en 2014

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

artículo científico publicado en 2009

Review: Recent progress in frontotemporal lobar degeneration

scientific article published on 10 October 2009

Semantic Corticobasal Dementia: Challenging Nosology in Frontotemporal Lobe Degeneration

artículo científico

Semantic dementia associated with corticobasal syndrome: a further variant of frontotemporal lobe degeneration?

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter

artículo científico publicado en 2002

TDP-43 gene analysis in frontotemporal lobar degeneration

article

TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing

artículo científico publicado en 2009

TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: association with age, hippocampal sclerosis and clinical phenotype

artículo científico publicado en 2011

TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration

artículo científico publicado en 2008

TREM2 analysis and increased risk of Alzheimer's disease

artículo científico publicado en 2014

Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

artículo científico publicado en 2003

Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein, Abeta40, in sporadic and familial Alzheimer's disease

artículo científico publicado en 2003

The Effect of tau genotype on clinical features in FTDP-17

article

The abundance of mRNA for dopamine D2 receptor isoforms in brain tissue from controls and schizophrenics

scientific article published on 01 August 1994

The angiotensin 1-converting enzyme insertion (I)/deletion (D) polymorphism does not influence the extent of amyloid or tau pathology in patients with sporadic Alzheimer's disease

artículo científico publicado en 2002

The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males.

artículo científico publicado en 2006

The complex aetiology of frontotemporal lobar degeneration

artículo científico publicado en 2007

The extended haplotype of the microtubule associated protein tau gene is not associated with Pick's disease.

artículo científico publicado en 2001

The extent of amyloid deposition in brain in patients with Down's syndrome does not depend upon the apolipoprotein E genotype.

artículo científico publicado en 1995

The genetics of frontotemporal dementia

artículo científico publicado en 2008

The genetics of frontotemporal lobar degeneration.

artículo científico

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

artículo científico

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

artículo científico publicado en 2006

The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein

artículo científico

The relative abundance of dopamine D4 receptor mRNA in post mortem brains of schizophrenics and controls

artículo científico publicado en 1996

The role of lysosomes and autophagosomes in frontotemporal lobar degeneration

artículo científico publicado en 2018

The status of "Pick's Disease" and other tauopathies within the frontotemporal dementias

artículo científico publicado en 2001

The tau gene locus and frontotemporal dementia

artículo científico publicado en 2004

UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting

artículo científico publicado en 2011

UBQLN2 variant of unknown significance in frontotemporal lobar degeneration

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.

artículo científico publicado en 2007

p62/SQSTM1 analysis in frontotemporal lobar degeneration

artículo científico publicado en 2014

Lista de obras de Stuart Pickering-Brown

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A comprehensive screening of copy number variability in dementia with Lewy bodies

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

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

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease

A polymorphism in the angiotensin 1-converting enzyme gene is associated with damage to cerebral cortical white matter in Alzheimer's disease.

A polymorphism within intron 11 of the tau gene is not increased in frequency in patients with sporadic Alzheimer's disease, nor does it influence the extent of tau pathology in the brain.

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Allelic variations in apolipoprotein E and prion protein genotype related to plaque formation and age of onset in sporadic Creutzfeldt-Jakob disease

Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotype

An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies

An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid beta protein deposited in Alzheimer's disease

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

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

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Analysis of optineurin in frontotemporal lobar degeneration.

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

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

ApoE2 allele, Down's syndrome, and dementia

Apolipoprotein E allelic frequencies in patients with lobar atrophy.

Apolipoprotein E epsilon 2 allele promotes longevity and protects patients with Down's syndrome from dementia

Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's disease

Apolipoprotein E epsilon4 allele has no effect on age at onset or duration of disease in cases of frontotemporal dementia with pick- or microvacuolar-type histology.

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

Apolipoprotein E4 and Alzheimer's disease pathology in Lewy body disease and in other beta-amyloid-forming diseases.

Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

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

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

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

Clinical features of dementia associated with apolipoprotein epsilon4: discrimination with a neural network genetic algorithm

Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

Debrisoquine hydroxylase gene polymorphism (CYP2D6*4) in dementia with Lewy bodies

Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis

Detection of the interleukin 18 family in rat brain by RT-PCR

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations

Effect of apolipoprotein E status on clinical features of dementia

Effect of topographical distribution of α-synuclein pathology on TDP-43 accumulation in Lewy body disease.

Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.

Extracellular Vesicles Isolated from Human Induced Pluripotent Stem Cell-Derived Neurons Contain a Transcriptional Network

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

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

Frequency oftau mutations in three series of non-Alzheimer's degenerative dementia

Frontotemporal dementia and its subtypes: a genome-wide association study

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene.

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotype

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

Histone deacetylases (HDACs) in frontotemporal lobar degeneration

Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation

Identification of a truncated IL-18R beta mRNA: a putative regulator of IL-18 expressed in rat brain

Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis