Lista de obras -

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

A yeast functional screen predicts new candidate ALS disease genes

artículo científico publicado en 2011

APOE, MAPT, and SNCA genes and cognitive performance in Parkinson disease

artículo científico publicado en 2014

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

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing

article

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

artículo científico publicado en 2016

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

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

artículo científico publicado en 2013

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

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

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

artículo científico publicado en 2015

Cognitive profile of LRRK2-related Parkinson's disease

artículo científico publicado en 2015

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

artículo científico publicado en 2011

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

artículo científico publicado en 2012

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

artículo científico publicado en 2014

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

artículo científico publicado en 2012

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

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

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

artículo científico publicado en 2013

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

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

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 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 analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

artículo científico publicado en 2017

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

artículo científico publicado en 2015

Hepatitis C Virus Genotyping of Organ Donor Samples to Aid in Transplantation of HCV-positive Organs.

artículo científico publicado en 2017

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

article

Lower plasma apolipoprotein A1 levels are found in Parkinson's disease and associate with apolipoprotein A1 genotype

artículo científico publicado en 2014

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Plasma multianalyte profiling in mild cognitive impairment and Alzheimer disease

artículo científico publicado en 2012

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats

artículo científico publicado en 2011

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

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

artículo científico publicado en 2017

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

artículo científico publicado en 2015

Sex-specific genetic predictors of Alzheimer's disease biomarkers

artículo científico publicado en 2018

TDP-43 Promotes Neurodegeneration by Impairing Chromatin Remodeling.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Transcriptomic Changes Due to Cytoplasmic TDP-43 Expression Reveal Dysregulation of Histone Transcripts and Nuclear Chromatin

artículo científico publicado en 2015

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

scholarly article by EunRan Suh et al published November 2018 in The Journal of Molecular Diagnostics

Lista de obras de

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

A yeast functional screen predicts new candidate ALS disease genes

APOE, MAPT, and SNCA genes and cognitive performance in Parkinson disease

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

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing

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

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

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

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

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

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

Cognitive profile of LRRK2-related Parkinson's disease

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

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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

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

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

Genetic Variability in CHMP2B and Frontotemporal Dementia

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

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

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 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 analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Hepatitis C Virus Genotyping of Organ Donor Samples to Aid in Transplantation of HCV-positive Organs.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Lower plasma apolipoprotein A1 levels are found in Parkinson's disease and associate with apolipoprotein A1 genotype

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

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

Plasma multianalyte profiling in mild cognitive impairment and Alzheimer disease

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats

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

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

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

Sex-specific genetic predictors of Alzheimer's disease biomarkers

TDP-43 Promotes Neurodegeneration by Impairing Chromatin Remodeling.

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

Transcriptomic Changes Due to Cytoplasmic TDP-43 Expression Reveal Dysregulation of Histone Transcripts and Nuclear Chromatin

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions