J. van der Zee

发表

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Demis A. Kia, O. Andreassen, B. Miller, 2020, Neurology.

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2019, Acta Neuropathologica.

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

C. van Broeckhoven, M. Cruts, J. van der Zee, 2005, Human molecular genetics.

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

E. Kremmer, C. van Broeckhoven, M. Cruts, 2013, Proceedings of the National Academy of Sciences.

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

C. van Broeckhoven, J. van der Zee, Hung Phuoc Nguyen, 2018, Trends in genetics : TIG.

Genotype–phenotype links in frontotemporal lobar degeneration

C. van Broeckhoven, S. Engelborghs, J. van der Zee, 2018, Nature Reviews Neurology.

Invited Article: The Alzheimer disease–frontotemporal lobar degeneration spectrum

C. Broeckhoven, K. Sleegers, J. van der Zee, 2008, Neurology.

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update

C. van Broeckhoven, M. Cruts, J. van der Zee, 2007, Neurodegenerative Diseases.

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Nick C Fox, Alan J. Thomas, D. Hernandez, 2020, Scientific Reports.

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

C. van Broeckhoven, J. Collinge, P. Johannsen, 2010, Human molecular genetics.

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

C. van Broeckhoven, J. van der Zee, T. van Langenhove, 2012, Annals of medicine.

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

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2007, Archives of neurology.

How network-based approaches can complement gene identification studies in frontotemporal dementia.

C. van Broeckhoven, J. van der Zee, Cemile Koçoğlu, 2022, Trends in genetics : TIG.

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

C. Broeckhoven, K. Sleegers, W. Robberecht, 2008, Neurology.

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

F. Jessen, G. Frisoni, B. Bergmans, 2017, Human mutation.

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

C. Broeckhoven, C. van Broeckhoven, S. Engelborghs, 2015, Molecular Psychiatry.

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

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2018, Alzheimer's Research & Therapy.

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

C. van Broeckhoven, M. Cruts, J. van der Zee, 2006, Human mutation.

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

Giuliano Binetti, Alberto Lleó, Juan Fortea, 2016, Acta Neuropathologica.

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

F. Jessen, G. Frisoni, T. Strom, 2014, Acta Neuropathologica.

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

Patrick Santens, Karin Peeters, Rik Vandenberghe, 2008, Human molecular genetics.

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

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2013, JAMA neurology.

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

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2011, Brain : a journal of neurology.

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

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2007, Human mutation.

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

J. Clarimón, P. Pástor, D. Lopez-Villegas, 2018, Journal of neuropathology and experimental neurology.

Relationship between C9orf72 repeat size and clinical phenotype.

C. van Broeckhoven, M. Cruts, J. van der Zee, 2017, Current opinion in genetics & development.

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

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2018, Alzheimer's Research & Therapy.

Serum biomarker for progranulin‐associated frontotemporal lobar degeneration

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2009, Annals of neurology.

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

B. Bergmans, K. Sleegers, C. van Broeckhoven, 2018, Neurobiology of Aging.

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

B. Bergmans, C. van Broeckhoven, S. Engelborghs, 2018, Neurobiology of Aging.

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

C. van Broeckhoven, M. Cruts, J. van der Zee, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

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

C. van Broeckhoven, M. de Carvalho, A. de Mendonça, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

C. van Broeckhoven, H. Hartmannová, L. Nosková, 2011, American journal of human genetics.

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

J. Trojanowski, V. Lee, C. van Broeckhoven, 2015, Acta neuropathologica communications.

TMEM106B a Novel Risk Factor for Frontotemporal Lobar Degeneration

C. van Broeckhoven, J. van der Zee, 2011, Journal of molecular neuroscience : MN.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

F. Pasquier, C. Duyckaerts, C. van Broeckhoven, 2021, Brain : a journal of neurology.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

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

S. Engelborghs, R. Vandenberghe, M. Cruts, 2009, Neurology.

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

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2015, Brain : a journal of neurology.

J. Tommassen, W. van Eden, J. van der Zee, 1988, Microbial pathogenesis.

Antiendothelial cell antibodies in systemic lupus erythematosus: enhanced antibody binding to interleukin-1-stimulated endothelium.

F. Breedveld, J. van der Zee, C. Siegert, 1994, International archives of allergy and immunology.

Genetic contribution of FUS to frontotemporal lobar degeneration

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2010, Neurology.

Characterization of anti-endothelial antibodies in patients with rheumatoid arthritis complicated by vasculitis.

F. Breedveld, J. van der Zee, M. Daha, 1991, Clinical and experimental rheumatology.

Cystathioninuria in patients with neuroblastoma.

P. Voûte, J. van der Zee, N. Abeling, 1984, Medical and pediatric oncology.

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.

C. van Broeckhoven, D. Galimberti, D. Hannequin, 2016, Journal of Alzheimer's disease : JAD.

Improved Alzheimer’s disease versus frontotemporal lobar degeneration differential diagnosis combining EEG and neurochemical biomarkers

M. de Vos, C. van Broeckhoven, S. Engelborghs, 2019 .

Uncovering the impact of noncoding variants in neurodegenerative brain diseases.

C. van Broeckhoven, J. van der Zee, Eline Wauters, 2021, Trends in genetics : TIG.

Protein interaction network analysis reveals genetic enrichment of immune system genes in frontotemporal dementia

C. Broeckhoven, C. van Broeckhoven, R. Kooy, 2022, Neurobiology of Aging.

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

C. van Broeckhoven, F. Perrone, J. van der Zee, 2021, Genome medicine.

Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

B. Bergmans, K. Sleegers, C. van Broeckhoven, 2020, Alzheimer's Research & Therapy.

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

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2006, Brain : a journal of neurology.

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

C. van Broeckhoven, J. van der Zee, Yalda Baradaran‐Heravi, 2020, Neurobiology of Disease.

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

R. Petersen, J. Trojanowski, M. Rossor, 2010, Acta Neuropathologica.

Promoter DNA methylation regulates progranulin expression and is altered in FTLD

C. Plass, C. van Broeckhoven, S. Engelborghs, 2013, Acta neuropathologica communications.

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

J. Molinuevo, H. Struyfs, K. Sleegers, 2014, Science Translational Medicine.

Genetic variants in progranulin upstream open reading frames increase downstream protein expression

C. van Broeckhoven, J. van der Zee, Rita Cacace, 2021, Neurobiology of Aging.

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

M. J. Fresnadillo Martínez, H. Hakonarson, G. Schellenberg, 2010, Nature Genetics.

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

C. van Broeckhoven, M. Heneka, J. van der Zee, 2018, EMBO molecular medicine.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

E. Haan, P. Pietrini, R. Petersen, 2017, Scientific Reports.

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

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2017, JAMA neurology.

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

F. Jessen, G. Frisoni, K. Sleegers, 2012, Human mutation.

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

Patrick Santens, Mathieu Vandenbulcke, Adrian Ivanoiu, 2015, Acta neuropathologica communications.

Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

C. van Broeckhoven, J. van der Zee, R. Rusina, 2020, Frontiers in Neurology.

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

K. Sleegers, S. Engelborghs, S. Maurer-Stroh, 2008, Neurology.

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

D. Dickson, K. Sleegers, C. van Broeckhoven, 2007, Brain : a journal of neurology.

Progranulin locus deletion in frontotemporal dementia

C. Broeckhoven, S. Engelborghs, M. Cruts, 2008, Human mutation.

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

M. Tsolaki, K. Sleegers, C. van Broeckhoven, 2017, Acta Neuropathologica.

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

C. van Broeckhoven, M. Cruts, J. van der Zee, 2017, Trends in molecular medicine.

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

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2015, Neurology.

Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer’s Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

C. van Broeckhoven, P. van Damme, G. Binetti, 2021, International journal of molecular sciences.

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

Eric Guedj, Valérie Hahn-Barma, Marie-Odile Habert, 2008, Brain : a journal of neurology.

Progranulin null mutations in both sporadic and familial frontotemporal dementia

B. Dubois, C. Duyckaerts, C. van Broeckhoven, 2007, Human mutation.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Nature Medicine.

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

C. van Broeckhoven, C. Shaw, P. Andersen, 2014, Journal of Medical Genetics.

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

J. Molinuevo, C. van Broeckhoven, J. Clarimón, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

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

J. Keller, C. van Broeckhoven, J. van der Zee, 2017, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

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

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Brain : a journal of neurology.

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

C. van Broeckhoven, S. Engelborghs, J. Verhoeven, 2016, Neurology: Genetics.

author-version of: Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

C. van Broeckhoven, S. Sorbi, V. Álvarez, 2022 .

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation

C. van Broeckhoven, J. van der Zee, E. Gómez-Tortosa, 2019, Neurobiology of Aging.

Investigation of the role of matrix metalloproteinases in the genetic etiology of Alzheimer's disease

C. van Broeckhoven, S. Engelborghs, J. van der Zee, 2021, Neurobiology of Aging.

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

C. van Broeckhoven, S. Engelborghs, P. Cras, 2018 .

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

H. Struyfs, C. van Broeckhoven, S. Engelborghs, 2017, Alzheimer's Research & Therapy.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Nick C Fox, D. Hernandez, M. Nalls, 2017, Scientific Reports.

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

M. Tsolaki, K. Sleegers, C. van Broeckhoven, 2015, Human mutation.

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

J. Trojanowski, V. Lee, C. van Broeckhoven, 2015, Acta neuropathologica communications.

Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

C. van Broeckhoven, R. Vandenberghe, P. van Damme, 2022, Biomolecules.

TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism

C. van Broeckhoven, J. van der Zee, E. Gómez-Tortosa, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

P. Pietrini, R. Desikan, J. Trojanowski, 2019, Scientific Reports.

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

C. van Broeckhoven, J. van der Zee, Hung Phuoc Nguyen, 2018, Trends in genetics : TIG.

Improved Alzheimer’s Disease versus Frontotemporal Lobar Degeneration Differential Diagnosis Combining EEG and Neurochemical Biomarkers: A Pilot Study

M. de Vos, C. van Broeckhoven, S. Engelborghs, 2022, Journal of Alzheimer's disease : JAD.

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

C. van Broeckhoven, M. Cruts, J. van der Zee, 2017, Trends in molecular medicine.

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

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2013, JAMA neurology.

Invited Article: The Alzheimer disease–frontotemporal lobar degeneration spectrum

C. Broeckhoven, K. Sleegers, J. van der Zee, 2008, Neurology.

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

H. Leonard, D. Knopman, C. van Broeckhoven, 2024, American journal of human genetics.

Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method

C. van Broeckhoven, G. Nagels, A. Ribbens, 2024, Alzheimer's research & therapy.

TMEM106B a Novel Risk Factor for Frontotemporal Lobar Degeneration

C. Broeckhoven, C. van Broeckhoven, J. van der Zee, 2011, Journal of Molecular Neuroscience.