List of works - Julie van der Zee

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

scientific article published on 22 February 2006

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

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

scientific article

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

scientific article published on 30 March 2016

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

scientific article published in June 2018

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

scientific article

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

scientific article published on 4 January 2013

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

scientific article published on 10 September 2015

ALS Genes in the Genomic Era and their Implications for FTD.

scientific article published on 28 March 2018

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

scientific article published in October 2007

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

scientific article published on 27 October 2011

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

scientific article published on 17 October 2013

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

scientific article published on 24 January 2013

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

scientific article published on 22 October 2007

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

scientific article published on 30 December 2015

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

scientific article published on 13 February 2017

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

scientific article published on 15 December 2015

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

scientific article published on August 2009

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

scientific article

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

scientific article published on 3 August 2015

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

scientific article published on 25 October 2017

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

scientific article

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

scientific article published on 07 June 2013

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017

Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs

scientific article

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

scientific article published on 20 March 2018

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

scientific article

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

scientific article published in March 2013

EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

scientific article

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

scientific article published on 9 January 2013

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

scientific article

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

scientific article

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

scientific article published on January 2007

Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia

scientific article published in March 2017

Genetic contribution of FUS to frontotemporal lobar degeneration

scientific article published in February 2010

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

scientific article published on 19 February 2015

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

scientific article

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

scientific article published on 21 December 2016

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

scientific article published on 10 November 2015

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

scientific article published on 9 October 2013

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

scientific article published on October 2008

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

scientific article

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

scientific article

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

scientific article published on 16 September 2016

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

scientific article

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

scientific article published in April 2007

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

scientific article

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

scientific article published on 7 May 2016

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

No added diagnostic value of non-phosphorylated tau fraction (p-taurel) in CSF as a biomarker for differential dementia diagnosis

scientific article

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

scientific article published on 14 May 2009

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

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

scientific article

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

scientific article published in February 2008

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

scientific article published on 4 December 2013

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

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

scientific article published on 13 May 2013

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

scientific article

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

scientific article published on 28 September 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

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

scientific article published on 17 February 2018

Relationship between C9orf72 repeat size and clinical phenotype

scientific article published on 17 March 2017

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

scientific article published in May 2009

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

scientific article published on 23 December 2016

TDP-43 AS A BIOMARKER FOR FRONTOTEMPORAL LOBE DEGENERATION: A SYSTEMATIC REVIEW OF EXISTING ANTIBODIES

article

TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies

scientific article

TMEM106B a novel risk factor for frontotemporal lobar degeneration

scientific article published on 26 May 2011

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

scientific article

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

scientific article

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

scientific article

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

scientific article

List of works by Julie van der Zee

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

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

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 blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

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

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

ALS Genes in the Genomic Era and their Implications for FTD.

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

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

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

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 heterogeneity in 3 unrelated families linked to VCP p.Arg159His

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

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

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

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

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

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

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

EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

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

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

Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia

Genetic contribution of FUS to frontotemporal lobar degeneration

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

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

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

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

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

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

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

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

No added diagnostic value of non-phosphorylated tau fraction (p-taurel) in CSF as a biomarker for differential dementia diagnosis

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

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

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

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

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

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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

Relationship between C9orf72 repeat size and clinical phenotype

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

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

TDP-43 AS A BIOMARKER FOR FRONTOTEMPORAL LOBE DEGENERATION: A SYSTEMATIC REVIEW OF EXISTING ANTIBODIES

TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies

TMEM106B a novel risk factor for frontotemporal lobar degeneration

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

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum