Lista de obras -

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

artículo científico publicado en 2006

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

artículo científico publicado en 2011

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

artículo científico publicado en 2004

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

artículo científico publicado en 2013

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

artículo científico publicado en 2006

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

artículo científico publicado en 2007

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

artículo científico publicado en 2003

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

artículo científico publicado en 2011

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

artículo científico publicado en 2013

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.

artículo científico publicado en 2013

Call for participation in the neurogenetics consortium within the Human Variome Project

artículo científico publicado en 2011

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family

artículo científico publicado en 2006

Cholesterol and triglycerides moderate the effect of apolipoprotein E on memory functioning in older adults

artículo científico

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

artículo científico publicado en 2017

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

artículo científico publicado en 2015

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

artículo científico publicado en 2018

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

artículo científico publicado en 2017

Contribution of TARDBP to Alzheimer's disease genetic etiology

artículo científico publicado en 2010

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

artículo científico

Data Mining: Applying the AD&FTD Mutation Database to Progranulin

artículo científico publicado en 2018

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

artículo científico publicado en 2013

Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.

artículo científico publicado en 2006

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

artículo científico

Early cognitive decline is associated with prion protein codon 129 polymorphism

artículo científico publicado en 2003

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

artículo científico publicado en 2013

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

artículo científico publicado en 2018

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update

artículo científico publicado en 2007

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

artículo científico publicado en 2012

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

artículo científico publicado en 2010

Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease.

artículo científico publicado en 2004

Genetics of early-onset Alzheimer dementia.

artículo científico publicado en 2003

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

artículo científico publicado en 2005

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

artículo científico publicado en 2014

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

article

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

artículo científico publicado en 2010

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

artículo científico publicado en 2015

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

artículo científico publicado en 2013

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

artículo científico publicado en 2007

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

artículo científico publicado en 2005

Locus-specific mutation databases for neurodegenerative brain diseases

artículo científico publicado en 2012

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

artículo científico publicado en 2013

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

artículo científico publicado en 2015

Loss of progranulin function in frontotemporal lobar degeneration

scientific article published on 06 March 2008

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

artículo científico publicado en 2006

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

artículo científico publicado en 2017

Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurology

artículo científico publicado en 2008

Molecular pathways of frontotemporal lobar degeneration

artículo científico publicado en 2010

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

artículo científico publicado en 2007

NanoPack: visualizing and processing long read sequencing data

scholarly article published 21 December 2017

NanoPack: visualizing and processing long-read sequencing data

artículo científico publicado en 2018

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

artículo científico publicado en 2003

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs

artículo científico publicado en 2009

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

artículo científico publicado en 2006

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.

artículo científico publicado en 2003

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

artículo científico publicado en 2006

Progranulin null mutations in both sporadic and familial frontotemporal dementia

artículo científico publicado en 2007

Promoter DNA methylation regulates progranulin expression and is altered in FTLD.

artículo científico publicado en 2013

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

artículo científico publicado en 2018

Reduced functional brain activity response in cognitively intact apolipoprotein E epsilon4 carriers

artículo científico

Reduced hippocampal volume in non-demented carriers of the apolipoprotein E epsilon4: relation to chronological age and recognition memory

artículo científico publicado en 2006

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

artículo científico publicado en 2015

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

artículo científico publicado en 2015

Relationship between C9orf72 repeat size and clinical phenotype

artículo científico publicado en 2017

Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.

artículo científico publicado en 2011

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

artículo científico publicado en 2014

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2009

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

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

artículo científico publicado en 2014

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

artículo científico publicado en 2011

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

artículo científico publicado en 2005

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

artículo científico publicado en 2013

The Genetics of C9orf72 Expansions

artículo científico publicado en 2017

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

artículo científico publicado en 2002

The genetics and neuropathology of frontotemporal lobar degeneration

artículo científico publicado en 2012

The presenilin genes: a new gene family involved in Alzheimer disease pathology

artículo científico publicado en 1996

The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects

scientific article published on 18 January 2010

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

scientific article published on 01 October 2006

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

artículo científico publicado en 2013

novoSNP, a novel computational tool for sequence variation discovery

artículo científico publicado en 2005

Lista de obras de

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.

Call for participation in the neurogenetics consortium within the Human Variome Project

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family

Cholesterol and triglycerides moderate the effect of apolipoprotein E on memory functioning in older adults

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

Contribution of TARDBP to Alzheimer's disease genetic etiology

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

Data Mining: Applying the AD&FTD Mutation Database to Progranulin

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

Early cognitive decline is associated with prion protein codon 129 polymorphism

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

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

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease.

Genetics of early-onset Alzheimer dementia.

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

Locus-specific mutation databases for neurodegenerative brain diseases

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Loss of progranulin function in frontotemporal lobar degeneration

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurology

Molecular pathways of frontotemporal lobar degeneration

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

NanoPack: visualizing and processing long read sequencing data

NanoPack: visualizing and processing long-read sequencing data

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Progranulin null mutations in both sporadic and familial frontotemporal dementia

Promoter DNA methylation regulates progranulin expression and is altered in FTLD.

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

Reduced functional brain activity response in cognitively intact apolipoprotein E epsilon4 carriers

Reduced hippocampal volume in non-demented carriers of the apolipoprotein E epsilon4: relation to chronological age and recognition memory

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

Relationship between C9orf72 repeat size and clinical phenotype

Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

The Genetics of C9orf72 Expansions

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

The genetics and neuropathology of frontotemporal lobar degeneration