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List of works by John Van Swieten

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers

scientific article published on 29 June 2016

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

A Longitudinal Study on Resting State Functional Connectivity in Behavioral Variant Frontotemporal Dementia and Alzheimer's Disease

scientific article published on 23 September 2016

A clinical-genetic study of Parkinson’s disease in a genetically isolated community

scientific article published on 01 September 2003

A deletion in DJ-1 and the risk of dementia--a population-based survey

scientific article published in December 2004

A genome-wide screen for depression in two independent Dutch populations

scientific article published on 8 May 2010

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population

scientific article

A multimodal MRI-based classification signature emerges just prior to symptom onset in frontotemporal dementia mutation carriers

scientific article published on 15 June 2019

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

scientific article

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

scientific article published in November 2004

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds

scientific article published on 08 June 2016

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

scientific article published in March 2002

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient

scientific article published in August 2011

A study of the SORL1 gene in Alzheimer's disease and cognitive function

scientific article published in January 2009

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016

Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort

scientific article published on 05 August 2020

Accuracy of the National Institute for Neurological Disorders and Stroke/Society for Progressive Supranuclear Palsy and neuroprotection and natural history in Parkinson plus syndromes criteria for the diagnosis of progressive supranuclear palsy

scientific article published on 21 February 2013

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

Alcohol consumption and risk of dementia: the Rotterdam Study

scientific article published in January 2002

Alzheimer Disease and Behavioral Variant Frontotemporal Dementia: Automatic Classification Based on Cortical Atrophy for Single-Subject Diagnosis

scientific article

Alzheimer disease: MRI and CSF biomarkers in AD--accuracy and temporal change

scientific article published in December 2010

Amyloid beta(1-42) and phosphorylated tau in CSF as markers for early-onset Alzheimer disease

scientific article

Apolipoprotein E gene and sporadic frontal lobe dementia.

scientific article published in June 1997

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

article

Apolipoprotein E4 in the temporal variant of frontotemporal dementia

scientific article published in June 2002

Are white matter lesions directly associated with cognitive impairment in patients with lacunar infarcts?

scientific article published in February 1996

Association of cognitive functioning with retinal nerve fiber layer thickness.

scientific article

Blood-brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: effect of polymorphisms in the ABCB1 gene

scientific article

Brain perfusion patterns in familial frontotemporal lobar degeneration

scientific article published on 13 July 2011

Brain volumetric deficits in MAPT mutation carriers: a multisite study

scientific article published on 28 November 2020

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ⬇️

scientific article published on 13 October 2011

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

scientific article

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 cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

scientific article published on 01 December 2006

CSF biomarkers in frontotemporal lobar degeneration with known pathology

scientific article published on May 2008

CSF biomarkers in frontotemporal lobar degeneration: relations with clinical characteristics, apolipoprotein E genotype, and neuroimaging

scientific article

CSF tau and Abeta42 are not useful in the diagnosis of frontotemporal lobar degeneration

scientific article

Caregiver burden, health-related quality of life and coping in dementia caregivers: a comparison of frontotemporal dementia and Alzheimer's disease

scientific article published on 11 September 2006

Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.

scientific article published on 18 November 2009

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.

scientific article published on 03 August 2016

Cerebral hypoperfusion and clinical onset of dementia: the Rotterdam Study

scientific article

Cerebral small vessel disease affects white matter microstructure in mild cognitive impairment

scientific article published on 23 September 2013

Cerebral white matter lesions and atherosclerosis in the Rotterdam Study

scientific article

Cerebral white matter lesions, vascular risk factors, and cognitive function in a population-based study: the Rotterdam Study

scientific article published in July 1994

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy

scientific article published on 24 May 2017

Choroid plexus papilloma in the posterior fossa

scientific article published in August 1987

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

scientific article published on 16 September 2011

Clinical features and neuroimaging of PARK7-linked parkinsonism

scientific article (publication date: July 2003)

Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia

scientific article published on 23 May 2019

Clinical value of neurofilament and phospho-tau/tau ratio in the frontotemporal dementia spectrum

scientific article published on 7 March 2018

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

scientific article

Coexistent tau and amyloid pathology in hereditary frontotemporal dementia with tau mutations

scientific article published in January 2000

Cognitive correlates of ventricular enlargement and cerebral white matter lesions on magnetic resonance imaging. The Rotterdam Study

scientific article

Combining multiple anatomical MRI measures improves Alzheimer's disease classification

scientific article

Common variants at 12q14 and 12q24 are associated with hippocampal volume

scientific article

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

scientific article

Complex compulsive behaviour in the temporal variant of frontotemporal dementia.

scientific article published on November 2001

Concurrent white and gray matter degeneration of disease-specific networks in early-stage Alzheimer's disease and behavioral variant frontotemporal dementia.

scientific article published on 7 April 2016

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

scientific article published on 01 October 2003

Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathies

scientific article published on 3 September 2012

Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology: A Systematic Review and Meta-analysis

scientific article published on 17 June 2019

Diagnostic accuracy of consensus diagnostic criteria for frontotemporal dementia in a memory clinic population

scientific article published on 4 January 2008

Diet and risk of dementia: Does fat matter?: The Rotterdam Study

scientific article

Dietary intake of antioxidants and risk of Alzheimer disease

scientific article

Differences in structural covariance brain networks between behavioral variant frontotemporal dementia and Alzheimer's disease

scientific article published on 10 December 2015

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

scientific article published on 04 March 2020

Different patterns of cortical gray matter loss over time in behavioral variant frontotemporal dementia and Alzheimer's disease

scientific article published on 30 October 2015

Distinct genetic forms of frontotemporal dementia.

scientific article published on 13 August 2008

Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales.

scientific article

Does cerebral infarction after a previous warning occur in the same vascular territory?

scientific article published on 01 March 1993

Early recognition and treatment of neuropsychiatric symptoms to improve quality of life in early Alzheimer's disease: protocol of the BEAT-IT study

Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration

scientific article published on 07 August 2020

Early-stage differentiation between presenile Alzheimer's disease and frontotemporal dementia using arterial spin labeling MRI.

scientific article

Education modulates brain maintenance in presymptomatic frontotemporal dementia

scientific article published on 10 June 2019

Epidemiological aspects of frontotemporal dementia.

scientific article published on January 2008

Episodic memory impairment in frontotemporal dementia; a ⁹⁹mTc- HMPAO SPECT study

scientific article published in March 2013

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

article

FTD/ALS families are no longer orphaned: the C9ORF72 story

scientific article published on 8 August 2012

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

scientific article

Familial aggregation in frontotemporal dementia

scientific article published in June 1998

Familial aggregation of parkinsonism in progressive supranuclear palsy.

scientific article

Familial aggregation, the PDE4D gene, and ischemic stroke in a genetically isolated population

scientific article

Familial clustering and genetic risk for dementia in a genetically isolated Dutch population

scientific article published on 6 May 2004

Familial forms of fronto-temporal dementia

scientific article published on April 1995

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.

scientific article published in October 2001

Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom.

scientific article

Fluid biomarkers in frontotemporal dementia: past, present and future

scientific article published on 13 November 2020

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

scientific article

Frontal presentation in progressive supranuclear palsy

scientific article published in August 2007

Frontotemporal Dementia: Behavioral Symptoms and Caregiver Distress

scientific article published on 06 August 2004

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

scientific article

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study

scientific article published on 22 July 2003

Frontotemporal dementia: change of familial caregiver burden and partner relation in a Dutch cohort of 63 patients.

scientific article published on 21 October 2008

Functional connectivity and microstructural white matter changes in phenocopy frontotemporal dementia.

scientific article published on 19 July 2016

GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

scientific article

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

scientific article

Genetic basis of frontotemporal dementia

scientific article published on 01 October 2007

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

scientific article

Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population

scientific article published on 28 July 2010

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 studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium

scientific article

Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology

scientific article published on 13 July 2005

Hereditary frontotemporal dementia caused by Tau gene mutations.

scientific article

Hereditary frontotemporal dementia is linked to chromosome 17q21?q22: A genetic and clinicopathological study of three dutch families

scientific article published on 01 February 1997

Heterogeneous Language Profiles in Patients with Primary Progressive Aphasia due to Alzheimer's Disease

scientific article

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

scientific article

Hypertension in the elderly is associated with white matter lesions and cognitive decline

scientific article published in December 1991

Hypodensity of the cerebral white matter in patients with transient ischemic attack or minor stroke: influence on the rate of subsequent stroke. Dutch TIA Trial Study Group

scientific article published on August 1, 1992

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Impact of behavioural problems on spousal caregivers: a comparison between Alzheimer's disease and frontotemporal dementia

scientific article published on 4 May 2006

In vivo PET imaging of neuroinflammation in familial frontotemporal dementia

scientific article published on 24 December 2020

Incidence of dementia: does gender make a difference?

scientific article

Inflammatory proteins in plasma and the risk of dementia: the rotterdam study

scientific article published in May 2004

Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease

scientific article published on 11 December 2014

Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology

scientific article published in December 2009

Interobserver agreement for the assessment of handicap in stroke patients.

scientific article

Intracerebral hematomas during anticoagulant treatment

scientific article published on 01 May 1990

Joint assessment of white matter integrity, cortical and subcortical atrophy to distinguish AD from behavioral variant FTD: A two-center study

scientific article

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

scholarly article by Marialuisa Quadri et al published July 2018 in Lancet Neurology

Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2

scientific article published on 08 August 2012

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

scientific article

Loss of frontal fMRI activation in early frontotemporal dementia compared to early AD.

scientific article published in June 2003

Medical and environmental risk factors for sporadic frontotemporal dementia: a retrospective case-control study ⬇️

scientific article published on November 1, 2003

Meningitis, cranial nerve palsies and bilateral cerebral infarcts : a neurological variant of Lemierre's syndrome

scientific article published on 02 August 2008

Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia.

scientific article published on 25 June 2012

Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI

scientific article published on 7 February 2015

Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients

scientific article published in December 2000

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

scientific article published on 28 April 2013

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

scientific article

Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism

scientific article published in September 2003

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia

scientific article published on 09 April 2020

Neuropathology of the hippocampus in FTLD-Tau with Pick bodies: a study of the BrainNet Europe Consortium.

scientific article published on February 2013

New developments in frontotemporal dementia and parkinsonism linked to chromosome 17.

scientific article

Novel diagnostic cerebrospinal fluid biomarkers for pathologic subtypes of frontotemporal dementia identified by proteomics.

scientific article published on 19 January 2016

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

scientific article published on 01 March 2011

PLD3 variants in population studies

scientific article published on April 2015

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

scientific article (publication date: May 2014)

Periventricular lesions in the white matter on magnetic resonance imaging in the elderly. A morphometric correlation with arteriolosclerosis and dilated perivascular spaces

scientific article published in April 1991

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.

scientific article

Phenotypic variation in hereditary frontotemporal dementia with tau mutations

scientific article

Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia

scientific article published on 14 January 2020

Plasma levels of antioxidants are not associated with Alzheimer's disease or cognitive decline

scientific article published on 23 December 2004

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

scientific article

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).

scientific article published in October 2000

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

scientific article published on 4 February 2015

Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.

scientific article published on 29 June 2016

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia

scientific article published on 01 November 2018

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

scientific article

Prognostic factors in patients with intracerebral haematoma ⬇️

scientific article published on August 1, 1992

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

scientific article published on 31 March 2008

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

scientific article published on 17 January 2007

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

scientific article published on 13 November 2017

RETRACTED: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

scientific article published on 13 December 2014

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

scientific article

Recent advances in progressive supranuclear palsy: a review.

scientific article published on May 2011

Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders

scientific article published on 04 March 2020

Recurrent brain abscess due to an unexpected foreign body

scientific article published in January 1992

Recurrent stroke after transient ischaemic attack or minor ischaemic stroke: does the distinction between small and large vessel disease remain true to type? Dutch TIA Trial Study Group ⬇️

scientific article published on August 1, 1995

Regional Cerebral Blood Flow and Cerebrovascular Risk Factors in the Elderly Population

scientific article published on 01 January 1998

Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease

scientific article published on 19 November 2014

Reproductive period and risk of dementia in postmenopausal women

scientific article published in March 2001

Residual lesions on computed tomography after intracerebral hemorrhage

scientific article published in December 1991

Resting state functional connectivity differences between behavioral variant frontotemporal dementia and Alzheimer's disease

scientific article

Sense of competence in a Dutch sample of informal caregivers of frontotemporal dementia patients

scientific article published on 10 March 2009

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

scientific article

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

scientific article published on 01 December 2019

Serum neurofilament light chain in progressive supranuclear palsy

scientific article published on 12 June 2018

Single Subject Classification of Alzheimer's Disease and Behavioral Variant Frontotemporal Dementia Using Anatomical, Diffusion Tensor, and Resting-State Functional Magnetic Resonance Imaging

scientific article published on 24 January 2018

Standardized evaluation of algorithms for computer-aided diagnosis of dementia based on structural MRI: the CADDementia challenge

scientific article published on 31 January 2015

Structural and functional brain abnormalities place phenocopy frontotemporal dementia (FTD) in the FTD spectrum

scientific article published on 10 April 2016

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia

scientific article published in July 2014

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.

scientific article published on 6 February 2013

Survival in progressive supranuclear palsy and frontotemporal dementia

scientific article published in April 2010

Survival profiles of patients with frontotemporal dementia and motor neuron disease

scientific article

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

scientific article published on 19 January 2014

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

scientific article published in March 2000

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval

scientific article published in January 2002

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

scientific article

The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS.

scientific article published on 12 September 2012

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair

scientific article published on 24 July 2006

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo

scientific article published in January 2007

The Dutch Parelsnoer Institute--Neurodegenerative diseases; methods, design and baseline results

scientific article

The Dutch Vascular Factors in Dementia Study: rationale and design

scientific article published on 01 January 1998

The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations

scientific article published in September 1994

The apolipoprotein E gene and its age-specific effects on cognitive function

scientific article

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

scientific article published on February 2012

The influence of cerebral small vessel disease on default mode network deactivation in mild cognitive impairment

scientific article

The role of the subgenual cingulate cortex in self-appraisal ⬇️

scientific article published on October 2, 2012

Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations

scientific article

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

scientific article published on 12 February 2009

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

scientific article published in Nature Communications

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

scientific article published in November 2003

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

scientific article

Vascular risk factors, atherosclerosis, cerebral white matter lesions and cerebral perfusion in a population-based study

scientific article published in June 1996

White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort

scientific article

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

scientific article published on 06 November 2019

[Amyotrophic lateral sclerosis and frontotemporal dementia: overlapping characteristics]

scientific article published on 01 January 2010

[Progressive supranuclear palsy; an unusual form of parkinsonism]

scientific article published on 01 March 2004

microRNA profiling: increased expression of miR-147a and miR-518e in progressive supranuclear palsy (PSP).

scientific article published on 6 April 2016

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