Lista de obras -

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

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

artículo científico publicado en 2020

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

artículo científico publicado en 2008

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

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

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

Autoantibodies in Sporadic Creutzfeldt-Jakob Disease ⬇️

artículo científico publicado el 1 de julio de 2013

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

artículo científico publicado en 2021

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2015

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

artículo científico publicado en 2011

Comment on validation of diagnostic criteria for variant Creutzfeldt‐Jakob disease ⬇️

artículo científico publicado el 1 de enero de 2011

Common polygenic variation enhances risk prediction for Alzheimer's disease

artículo científico publicado en 2015

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay ⬇️

artículo científico publicado el 5 de febrero de 2011

Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease

artículo científico publicado en 2022

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations

artículo científico publicado en 2010

Empowering Better End-of-Life Dementia Care (EMBED-Care): A mixed methods protocol to achieve integrated person-centred care across settings

artículo científico publicado en 2019

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

scientific article published on 04 July 2016

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

artículo científico publicado en 2012

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease

scientific article published on 08 July 2019

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

artículo científico publicado en 2013

Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease.

artículo científico publicado en 2015

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

artículo científico publicado en 2010

Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations

artículo científico publicado en 2013

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

Genetic testing in dementia - utility and clinical strategies

artículo científico publicado en 2020

Genetic variability in CLU and its association with Alzheimer's disease

artículo científico publicado en 2010

Genetics of Prion Disease ⬇️

artículo científico publicado el 1 de enero de 2011

Genetics of prion diseases ⬇️

artículo científico publicado el 19 de marzo de 2013

Genome wide association studies and prion disease ⬇️

artículo científico publicado el 1 de julio de 2011

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

artículo científico publicado en 2009

HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q.

artículo científico publicado en 2009

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

artículo científico publicado en 2013

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease

scholarly article by Philip S J Weston et al published 20 February 2019 in Alzheimers Research & Therapy

MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease ⬇️

artículo científico publicado el 5 de diciembre de 2012

Mapping the progression of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2008

Marked abnormalities of plasma protein biomarkers in Creutzfeldt-Jakob disease (CJD)

scientific article published on 14 September 2020

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

artículo científico publicado en 2009

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease

artículo científico publicado en 2011

Non-photic phase shifting of the circadian activity rhythm of Syrian hamsters: the relative potency of arousal and melatonin

artículo científico publicado el 18 de septiembre de 1992

PRION-1 scales analysis supports use of functional outcome measures in prion disease ⬇️

artículo científico publicado el 19 de octubre de 2011

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

artículo científico publicado en 2008

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

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

artículo científico publicado en 2015

Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process

scientific article published on 25 October 2019

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation ⬇️

artículo científico publicado el 21 de noviembre de 2011

Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

artículo científico publicado en 2023

Profiles of white matter tract pathology in frontotemporal dementia

artículo científico publicado en 2014

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia

artículo científico publicado en 2014

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

artículo científico publicado en 2017

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

artículo científico publicado en 2016

Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration

artículo científico publicado en 2017

Sporadic—but Not Variant—Creutzfeldt-Jakob Disease Is Associated with Polymorphisms Upstream of PRNP Exon 1 ⬇️

artículo científico publicado el 5 de noviembre de 2001

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

artículo científico publicado en 2020

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

artículo científico publicado en 2014

The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies ⬇️

artículo científico publicado el 1 de abril de 2013

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

artículo científico publicado en 2012

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

artículo científico publicado en 2013

Lista de obras de

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

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

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

Analysis of shared heritability in common disorders of the brain

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

Autoantibodies in Sporadic Creutzfeldt-Jakob Disease ⬇️

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

Comment on validation of diagnostic criteria for variant Creutzfeldt‐Jakob disease ⬇️

Common polygenic variation enhances risk prediction for Alzheimer's disease

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay ⬇️

Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations

Empowering Better End-of-Life Dementia Care (EMBED-Care): A mixed methods protocol to achieve integrated person-centred care across settings

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

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

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

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease.

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations

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

Genetic testing in dementia - utility and clinical strategies

Genetic variability in CLU and its association with Alzheimer's disease

Genetics of Prion Disease ⬇️

Genetics of prion diseases ⬇️

Genome wide association studies and prion disease ⬇️

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease

MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease ⬇️

Mapping the progression of progranulin-associated frontotemporal lobar degeneration

Marked abnormalities of plasma protein biomarkers in Creutzfeldt-Jakob disease (CJD)

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

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease

Non-photic phase shifting of the circadian activity rhythm of Syrian hamsters: the relative potency of arousal and melatonin

PRION-1 scales analysis supports use of functional outcome measures in prion disease ⬇️

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

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

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation ⬇️

Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Profiles of white matter tract pathology in frontotemporal dementia

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration

Sporadic—but Not Variant—Creutzfeldt-Jakob Disease Is Associated with Polymorphisms Upstream of PRNP Exon 1 ⬇️

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

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

The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies ⬇️

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

Validation of next-generation sequencing technologies in genetic diagnosis of dementia