C. van Broeckhoven

发表

Diffusion Kurtosis Imaging: A Possible MRI Biomarker for AD Diagnosis?

P. Parizel, J. Sijbers, J. Veraart, 2015, Journal of Alzheimer's disease : JAD.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes

Nick C Fox, Thomas W. Mühleisen, Michelle K. Lupton, 2009, Nature Genetics.

Molecular genetics of Alzheimer's disease: An update

Christine Van Broeckhoven, Kristel Sleegers, K. Sleegers, 2008, Annals of medicine.

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.

C. van Broeckhoven, A. Ekici, M. Schachner, 1998, Genetic analysis : biomolecular engineering.

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

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

Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins

C. van Broeckhoven, A. Ekici, M. Schachner, 2002, BMC Cell Biology.

Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease

Nick C Fox, Thomas W. Mühleisen, Michelle K. Lupton, 2011, Nature Genetics.

MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study

J. Molinuevo, P. Scheltens, O. Blin, 2018, Alzheimer's Research & Therapy.

The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics

R. Dobson, J. Molinuevo, P. Scheltens, 2018, Alzheimer's Research & Therapy.

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

Nick C Fox, Cory C. Funk, D. G. Clark, 2017, Nature Genetics.

Polymorphism of brain derived neurotrophic factor influences β amyloid load in cognitively intact apolipoprotein E ε4 carriers

E. Reiman, P. Dupont, K. Sleegers, 2013, NeuroImage: Clinical.

Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults.

P. Dupont, K. Sleegers, C. van Broeckhoven, 2016, Cerebral cortex.

Presenilins and Alzheimer's Disease

C. van Broeckhoven, 1999, Science.

novoSNP, a novel computational tool for sequence variation discovery.

C. van Broeckhoven, M. Cruts, R. Rademakers, 2005, Genome research.

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

Kenneth Offit, Diether Lambrechts, Gil Atzmon, 2014, Nature Communications.

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

Eden R Martin, Seth Love, Brian Lawlor, 2019, Nature Genetics.

Frontotemporal Lobar Degeneration: Current Concepts in the Light of Recent Advances

C. van Broeckhoven, S. Kumar-Singh, C. Van, 2007 .

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.

Wouter De Coster, Mojca Strazisar, Svenn D'Hert, 2019, Genome research.

Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease.

Samir Kumar-Singh, Christine Van Broeckhoven, Annemie Van der Linden, 2008, Neurobiology of aging.

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.

Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.

Aldo Quattrone, Nobutaka Hattori, Mariza de Andrade, 2006, JAMA.

The genetic landscape of Alzheimer disease: clinical implications and perspectives

Christine Van Broeckhoven, Kristel Sleegers, K. Sleegers, 2015, Genetics in Medicine.

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

Philippe Amouyel, Jean-Charles Lambert, Lars Bertram, 2010, Trends in genetics : TIG.

Meta-analysis of the association between variants in SORL1 and Alzheimer disease.

Sandro Sorbi, Masatoshi Takeda, Eng King Tan, 2011, Archives of neurology.

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

L. Lagae, C. Broeckhoven, C. van Broeckhoven, 2001, American journal of human genetics.

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

C. van Broeckhoven, C. Masimirembwa, J. Del-Favero, 2009, Human Genomics.

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.

Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

C. van Broeckhoven, J. Martín, E. Nelis, 1993, Human molecular genetics.

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Berten Ceulemans, Salmo Raskin, Jurgen Del-Favero, 2003, Human mutation.

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila.

Stein Aerts, Jean-Charles Lambert, Julien Chapuis, 2013, Cell reports.

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.

Presenilin mutations in Alzheimer's disease

C. van Broeckhoven, M. Cruts, M Cruts, 1998, Human mutation.

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

J. Lupski, C. van Broeckhoven, J. Martín, 1997, Journal of medical genetics.

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.

Degeneration of ingestion‐related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7

H. Paulson, C. Broeckhoven, C. van Broeckhoven, 2006, Neuropathology and applied neurobiology.

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

C. van Broeckhoven, J. D. den Dunnen, M. Wapenaar, 1989, American journal of human genetics.

Genotype–phenotype links in frontotemporal lobar degeneration

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

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

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

Characterization of Ubiquitinated Intraneuronal Inclusions in a Novel Belgian Frontotemporal Lobar Degeneration Family

C. van Broeckhoven, R. Vandenberghe, M. Cruts, 2006, Journal of neuropathology and experimental neurology.

Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility.

C. Broeckhoven, C. van Broeckhoven, J. Theuns, 2000, Human molecular genetics.

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

Elena S. Gusareva, J. Haines, M. Pericak-Vance, 2018, Neurobiology of Aging.

Phosphatidylinositol 3‐kinase activity is required for the expression of glial fibrillary acidic protein upon cAMP‐dependent induction of differentiation in rat C6 glioma

C. Broeckhoven, C. van Broeckhoven, D. Roymans, 2001, Journal of neurochemistry.

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.

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2018, Acta Neuropathologica.

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.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

J. Gallacher, M. Fornage, I. Giegling, 2018, bioRxiv.

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

K. Sleegers, C. van Broeckhoven, Rita Cacace, 2019, Genome Biology.

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer’s disease

C. van Broeckhoven, Rita Cacace, Liene Bossaerts, 2022, Molecular Neurodegeneration.

Mean age‐of‐onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40

C. van Broeckhoven, M. Cruts, J. Theuns, 2006, Human mutation.

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

K. Sleegers, C. van Broeckhoven, C. V. van Duijn, 2005, American journal of human genetics.

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion

C. van Broeckhoven, R. Sciot, M. Cruts, 2000, Journal of Neurology.

Molecular Medicine Original Articles Evidence That the ␤-catenin Nuclear Translocation Assay Allows for Measuring Presenilin 1 Dysfunction

P. S. St George-Hyslop, C. Broeckhoven, C. van Broeckhoven, 2000 .

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

P. Scheltens, F. Barkhof, G. Frisoni, 2022, Molecular Psychiatry.

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.

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2008, Human mutation.

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

G. Schellenberg, S. Melquist, D. Dickson, 2005, Human molecular genetics.

Associations of leptin with body fat distribution and metabolic parameters in non-insulin-dependent diabetic patients: no effect of apolipoprotein E polymorphism.

C. van Broeckhoven, L. V. Van Gaal, R. Considine, 2000, Metabolism: clinical and experimental.

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

K. Sleegers, C. van Broeckhoven, Rita Cacace, 2018, bioRxiv.

WT1 MUTATION IN MALIGNANT MESOTHELIOMA AND WT1 IMMUNOREACTIVITY IN RELATION TO p53 AND GROWTH FACTOR RECEPTOR EXPRESSION, CELL‐TYPE TRANSITION, AND PROGNOSIS

E. van Marck, C. van Broeckhoven, H. Backhovens, 1997, The Journal of pathology.

Role of progranulin as a biomarker for Alzheimer's disease.

K. Sleegers, C. van Broeckhoven, N. Brouwers, 2010, Biomarkers in medicine.

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2009, Human mutation.

Genes and loci involved in febrile seizures and related epilepsy syndromes

C. van Broeckhoven, P. de Jonghe, D. Audenaert, 2006, Human mutation.

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.

De novo KCNQ2 mutations in patients with benign neonatal seizures

C. van Broeckhoven, K. Claeys, B. Ceulemans, 2004, Neurology.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

J. Ioannidis, M. Farrer, D. Maraganore, 2012, Journal of Medical Genetics.

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

C. Broeckhoven, C. van Broeckhoven, R. Bayoumi, 2006, Neurology.

Phenotypic Variation of Autosomal-Dominant Corticobasal Degeneration

P. Brugger, A. Aguzzi, C. van Broeckhoven, 2012, European Neurology.

Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E

C. van Broeckhoven, O. Evgrafov, V. Timmerman, 2001, Annals of neurology.

Early‐onset Alzheimer's disease in 2 large Belgian families

C. van Broeckhoven, J. Martín, P. Cras, 1991, Neurology.

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.

Increased risk of dementia following mild head injury for carriers but not for non-carriers of the APOE ε4 allele

L. Nyberg, C. Broeckhoven, C. van Broeckhoven, 2006, International Psychogeriatrics.

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

M. Nalls, A. Singleton, T. Wolfsberg, 2013, JAMA neurology.

Screening for Mutations in the Peripheral Myelin Genes PMP 22 , MPZ and Cx 32 ( GJB 1 ) in Russian Charcot-Marie-Tooth Neuropathy Patients

C. Broeckhoven, C. van Broeckhoven, O. Evgrafov, 2022 .

Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

C. van Broeckhoven, C. Haass, G. Kleinberger, 2012, Molecular Neurobiology.

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.

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)

M. Devoto, C. van Broeckhoven, A. Quattrone, 1998, Neurology.

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

C. van Broeckhoven, J. Martín, V. Timmerman, 1990, American journal of human genetics.

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.

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2010, Journal of Alzheimer's disease : JAD.

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.

Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase

K. Sleegers, C. van Broeckhoven, M. Cruts, 2011, The Journal of Neuroscience.

Serum biomarker for progranulin‐associated frontotemporal lobar degeneration

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

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

K. Sleegers, C. van Broeckhoven, M. Cruts, 2008, Archives 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.

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

C. van Broeckhoven, W. Robberecht, J. Theuns, 2007, Human mutation.

Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism

C. van Broeckhoven, S. Smolders, 2020, Acta Neuropathologica.

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.

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

C. van Broeckhoven, S. Engelborghs, P. Mariën, 2006, Neurobiology of aging.

The genetics of dementia with Lewy bodies: what are we missing?

C. van Broeckhoven, J. Theuns, Bram Meeus, 2012, Archives of neurology.

Mutations in the myelin protein zero gene associated with Charcot‐Marie‐Tooth disease type 1B

C. van Broeckhoven, D. Pham‐Dinh, G. Chazot, 1995, Human mutation.

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

C. van Broeckhoven, W. Robberecht, R. Dom, 1994, Annals of neurology.

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.

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

C. van Broeckhoven, K. Van Laere, W. Vandenberghe, 2009, Movement disorders : official journal of the Movement Disorder Society.

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

C. van Broeckhoven, M. Cruts, S. Kumar-Singh, 2006, Current Alzheimer research.

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

B. Asselbergh, K. Sleegers, C. Robberecht, 2015, Molecular Neurodegeneration.

Cellular ageing, increased mortality and FTLD‐TDP‐associated neuropathology in progranulin knockout mice

S. Pereson, C. van Broeckhoven, P. D. De Deyn, 2012, The Journal of pathology.

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

C. van Broeckhoven, M. Cruts, 2018, Methods in molecular biology.

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.

Molecular Diagnostic Testing in Charcot‐Marie‐Tooth Disease and Related Disorders: Approaches and Results

C. van Broeckhoven, V. Timmerman, E. Nelis, 1999, Annals of the New York Academy of Sciences.

Genes for Alzheimer Dementia

C. van Broeckhoven, J. Theuns, 1999, Acta Neuropsychiatrica.

Novel PSEN1 Mutation in a Bulgarian Patient With Very Early-Onset Alzheimer’s Disease, Spastic Paraparesis, and Extrapyramidal Signs

C. van Broeckhoven, M. Cruts, S. Mehrabian, 2009, American journal of Alzheimer's disease and other dementias.

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.

Processing of presenilin 1 in brains of patients with Alzheimer's disease and controls

C. van Broeckhoven, L. Hendriks, S. Sisodia, 1997, Neuroreport.

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.

C. van Broeckhoven, J. Theuns, P. Cras, 2011, Parkinsonism & related disorders.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Increased caspase activation and decreased TDP‐43 solubility in progranulin knockout cortical cultures

C. van Broeckhoven, J. Timmermans, S. Kumar-Singh, 2010, Journal of neurochemistry.

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

C. van Broeckhoven, J. D. den Dunnen, P. Pearson, 1989, Journal of medical genetics.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

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

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

C. van Broeckhoven, J. Janssens, H. Wils, 2011, Biochemical Society transactions.

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

C. van Broeckhoven, S. Jander, A. Jordanova, 2019, Orphanet Journal of Rare Diseases.

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

B. de Strooper, C. van Broeckhoven, S. Serneels, 2001, Human molecular genetics.

Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics.

C. van Broeckhoven, J. Martín, J. Beuten, 1999, Annals of the New York Academy of Sciences.

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

C. van Broeckhoven, J. Martín, J. Beuten, 1996, Human molecular genetics.

Mutation analysis of the connexin 32 (Cx32) gene in charcot‐marie‐tooth neuropathy type 1: Identification of five new mutations

C. van Broeckhoven, H. Backhovens, J. Martin, 1997, Human mutation.

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

C. van Broeckhoven, F. Viader, B. Lechevalier, 1996, Journal of neurology, neurosurgery, and psychiatry.

Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

G. Mortier, C. van Broeckhoven, P. Sutter, 1998, Molecular human reproduction.

Ataxin‐7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

C. van Broeckhoven, B. Harding, F. Scaravilli, 2004, Annals of neurology.

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.

C. van Broeckhoven, G. Holmgren, E. Nelis, 1994, Journal of medical genetics.

Peripheral myelin protein‐22 expression in charcot‐marie‐tooth disease type 1a sural nerve biopsies

C. van Broeckhoven, J. Martín, G. Stoll, 1994, Journal of neuroscience research.

PMP22 Thr118Met is not a clinically relevant CMT1 marker

C. van Broeckhoven, B. Rautenstrauss, V. Timmerman, 2000, Journal of Neurology.

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

E. Ringelstein, C. van Broeckhoven, G. Assmann, 1998, Neurology.

Prenatal diagnosis of charcot‐marie‐tooth disease type 1a (CMT1A) using molecular genetic techniques

C. Broeckhoven, C. van Broeckhoven, V. Timmerman, 1995, Prenatal diagnosis.

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.

C. van Broeckhoven, V. Timmerman, E. Nelis, 1994, Human molecular genetics.

A Second Family with Autosomal Dominant Burning Feet Syndrome

C. van Broeckhoven, V. Timmerman, G. Kuhlenbäumer, 1999, Annals of the New York Academy of Sciences.

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

C. van Broeckhoven, J. Martín, H. Houlden, 2006 .

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

J. Lupski, C. van Broeckhoven, V. Timmerman, 1999, Neurology.

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Brain : a journal of neurology.

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

P. Patel, C. van Broeckhoven, J. Martín, 1998, Journal of medical genetics.

A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.

C. van Broeckhoven, J. Meuleman, V. Timmerman, 1999, Genomics.

Hereditary neuralgic amyotrophy

C. van Broeckhoven, J. Meuleman, V. Timmerman, 2001, Neurogenetics.

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

S. Pereson, C. van Broeckhoven, S. Kumar-Singh, 2010, Proceedings of the National Academy of Sciences.

Overexpression of ALS-Associated p.M337V Human TDP-43 in Mice Worsens Disease Features Compared to Wild-type Human TDP-43 Mice

C. van Broeckhoven, S. Kumar-Singh, J. Janssens, 2013, Molecular Neurobiology.

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

C. van Broeckhoven, B. Ceulemans, P. de Jonghe, 2003, Neurology.

A novel GABRG2 mutation associated with febrile seizures

L. Lagae, C. van Broeckhoven, K. Claeys, 2006, Neurology.

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

E. Kremmer, C. van Broeckhoven, M. Cruts, 2013, Science.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

C. van Broeckhoven, S. Berkovic, A. Meurs, 2018, Neurology.

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.

C. van Broeckhoven, J. Martín, B. Ceulemans, 2001, Pathology, research and practice.

Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics

C. van Broeckhoven, J. Beuten, V. Timmerman, 1999, Annals of the New York Academy of Sciences.

Messenger RNA Electroporation of Human Monocytes, Followed by Rapid In Vitro Differentiation, Leads to Highly Stimulatory Antigen-Loaded Mature Dendritic Cells1

C. van Broeckhoven, Z. Berneman, M. Lenjou, 2002, The Journal of Immunology.

Mutations in GDAP1

C. van Broeckhoven, F. Palau, V. Timmerman, 2002, 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.

Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases

Marc Cruts, Christine Van Broeckhoven, C. van Broeckhoven, 2012, Human mutation.

Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population

C. van Broeckhoven, Rita Cacace, 2021, Acta Neuropathologica.

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy

C. van Broeckhoven, R. Sánchez-Valle, E. Gelpí, 2014, Neuropathology and applied neurobiology.

Genetic contribution of FUS to frontotemporal lobar degeneration

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

Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning

Sebastiaan, K. Blennow, P. Scheltens, 2022, Genome Medicine.

Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion.

C. van Broeckhoven, L. Hendriks, C. Eckman, 1998, Neurobiology of disease.

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

M. Farrer, M. Hulihan, S. Lincoln, 2004, Annals of neurology.

Molecular genetics of Alzheimer disease: identification of genes and gene mutations.

C. van Broeckhoven, 1995, European neurology.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

C. van Broeckhoven, F. Palau, V. Timmerman, 2002 .

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

C. van Broeckhoven, V. Procaccio, R. Ellis, 1995, American journal of human genetics.

Efficient generation of stably electrotransfected human hematopoietic cell lines without drug selection by consecutive FACsorting.

C. Broeckhoven, C. van Broeckhoven, Z. Berneman, 2000, Cytometry.

Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth.

C. Broeckhoven, C. van Broeckhoven, R. Roos, 1997, Brain : a journal of neurology.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

C. van Broeckhoven, W. Hul, E. Bakker, 1991, American journal of human genetics.

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

C. van Broeckhoven, J. Meuleman, K. Venken, 2001, Annals of human genetics.

Newest Methods for Detecting Structural Variations.

C. van Broeckhoven, Wouter De Coster, 2019, Trends in biotechnology.

Measurement of arginine transport in human erythrocytes using their intrinsic arginase activity: implications for the treatment of familial hyperargininemia.

C. van Broeckhoven, B. Marescau, H. Terheggen, 1982, Clinica chimica acta; international journal of clinical chemistry.

Whole‐exome rare‐variant analysis of Alzheimer's disease and related biomarker traits

P. Scheltens, F. Barkhof, G. Frisoni, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

S. Klebe, C. van Broeckhoven, A. Durr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).

J. Hardy, C. Broeckhoven, C. van Broeckhoven, 1990, Science.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

C. van Broeckhoven, O. Evgrafov, V. Timmerman, 2000, Human mutation.

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson’s disease pathogenesis

C. van Broeckhoven, S. Smolders, 2020, Acta Neuropathologica Communications.

Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export

B. Bergmans, C. van Broeckhoven, S. Engelborghs, 2020, Acta Neuropathologica.

Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

R. Dobson, K. Blennow, J. Molinuevo, 2019, bioRxiv.

The Cerebrospinal Fluid Neurogranin/BACE1 Ratio is a Potential Correlate of Cognitive Decline in Alzheimer’s Disease

C. Duyckaerts, H. Struyfs, C. Robberecht, 2016, Journal of Alzheimer's disease : JAD.

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 .

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

W. M. van der Flier, D. Rujescu, I. Giegling, 2022, Acta Neuropathologica.

Molecular biological characterization of an azole-resistant Candida glabrata isolate

C. van Broeckhoven, V. Timmerman, F. Odds, 1997, Antimicrobial agents and chemotherapy.

Autosomal dominant burning feet syndrome

C. van Broeckhoven, V. Timmerman, J. Weis, 1999, Journal of neurology, neurosurgery, and psychiatry.

NanoPack: visualizing and processing long-read sequencing data

Wouter De Coster, Svenn D'Hert, Darrin T. Schultz, 2018, bioRxiv.

Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult‐onset patient with progressive visual impairments in comparison with an adult‐onset patient without visual impairments

C. Broeckhoven, C. van Broeckhoven, L. Schöls, 2008, Neuropathology and applied neurobiology.

Nucleoside diphosphate kinase beta (Nm23-R1/NDPKbeta) is associated with intermediate filaments and becomes upregulated upon cAMP-induced differentiation of rat C6 glioma.

C. van Broeckhoven, I. Lascu, D. Roymans, 2000, Experimental cell research.

Uncovering the impact of noncoding variants in neurodegenerative brain diseases.

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

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

J. Lupski, C. Broeckhoven, C. van Broeckhoven, 1998, American journal of human genetics.

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.

Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2010, Journal of Alzheimer's disease : JAD.

sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early‐stage Alzheimer's disease and associate with neuronal injury markers

K. Blennow, J. Molinuevo, M. Ewers, 2016, EMBO molecular medicine.

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

K. Sleegers, C. van Broeckhoven, C. V. van Duijn, 2006, Brain : a journal of neurology.

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

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

Presenilins Mutated at Asp-257 or Asp-385 Restore Pen-2 Expression and Nicastrin Glycosylation but Remain Catalytically Inactive in the Absence of Wild Type Presenilin*

B. de Strooper, C. van Broeckhoven, W. Annaert, 2003, Journal of Biological Chemistry.

Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms.

C. van Broeckhoven, G. Marfany, L. Hendriks, 1998, Journal of neurogenetics.

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

C. van Broeckhoven, L. Hendriks, M. Cruts, 1996, Human molecular genetics.

Current status on Alzheimer disease molecular genetics: from past, to present, to future

K. Sleegers, C. van Broeckhoven, K. Bettens, 2010, Human molecular genetics.

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

W. M. van der Flier, M. Fornage, D. Rujescu, 2021, Nature Communications.

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker–based case–control study

K. Blennow, C. van Broeckhoven, S. Engelborghs, 2020, PLoS medicine.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Lymphoblast-derived integration-free iPSC lines from a female and male Alzheimer's disease patient expressing different copy numbers of a coding CNV in the Alzheimer risk gene CR1.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2016, Stem cell research.

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

Antony V. Cox, E. Eichler, A. Reymond, 2007, Genome research.

Current Insights into Molecular Mechanisms of Alzheimer Disease and Their Implications for Therapeutic Approaches

C. van Broeckhoven, S. Kumar-Singh, B. Van Broeck, 2007, Neurodegenerative Diseases.

A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques

C. van Broeckhoven, M. Cruts, J. Theuns, 2004, Annals of neurology.

Genetics of Early-Onset Alzheimer Dementia

C. van Broeckhoven, M. Cruts, R. Rademakers, 2003, TheScientificWorldJournal.

Transmission and age‐at‐onset patterns in familial Alzheimer's disease

J. Growdon, P. S. St George-Hyslop, M. Rossor, 1990, Neurology.

Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75year old female.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2018, Stem cell research.

ATXN2 trinucleotide repeat length correlates with risk of ALS

Ashley R. Jones, J. Hardy, Yi-Chung Lee, 2017, Neurobiology of Aging.

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.

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.

C. van Broeckhoven, M. Cruts, J. Theuns, 2005, Trends in genetics : TIG.

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

K. Verstrepen, C. van Broeckhoven, W. Robberecht, 2016, Scientific Reports.

ZCWPW1 loss-of-function variants in Alzheimer's Disease

K. Sleegers, C. van Broeckhoven, J. Lambert, 2021, medRxiv.

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update

Marc Cruts, Karen Nuytemans, Christine Van Broeckhoven, 2010, Human mutation.

Absence of genetic linkage of Charcot‐Marie‐Tooth disease (HMSN Ia) with chromosome 1 gene markers

C. van Broeckhoven, H. Backhovens, A. Wehnert, 1989, 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.

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD–ALS spectrum disorders

C. van Broeckhoven, J. Janssens, 2013, Human molecular genetics.

Molecular pathways of frontotemporal lobar degeneration.

K. Sleegers, C. van Broeckhoven, M. Cruts, 2010, Annual review of neuroscience.

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

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

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

C. van Broeckhoven, S. Engelborghs, M. Cruts, 2010, Archives of neurology.

Promoter DNA methylation regulates progranulin expression and is altered in FTLD

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

TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels

K. Blennow, P. Scheltens, O. Blin, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer’s disease biomarker levels

R. Dobson, K. Blennow, P. Scheltens, 2020, bioRxiv.

Identification of caspases that cleave presenilin‐1 and presenilin‐2

Wim Declercq, Peter Vandenabeele, P. Vandenabeele, 1999, FEBS letters.

Proteolytic processing of presenilin‐1 (PS‐1) is not associated with Alzheimer's disease with or without PS‐1 mutations

A. Roses, P. S. St George-Hyslop, C. van Broeckhoven, 1997, FEBS letters.

Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

C. van Broeckhoven, C. Haass, G. Kleinberger, 2012, Molecular Neurobiology.

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus

Dyck, W. van Paesschen, C. van Broeckhoven, 2005, Journal of Medical Genetics.

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

W. van Paesschen, C. van Broeckhoven, C. Depondt, 2004, Journal of Medical Genetics.

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

C. van Broeckhoven, Rita Cacace, Julie Hoogmartens, 2021, Alzheimer's & dementia.

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2016, Neurology.

Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

C. van Broeckhoven, W. Lissens, A. V. Van Steirteghem, 1995, Prenatal diagnosis.

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson diseaseSYMBOL

M. Farrer, J. Kachergus, E. Tolosa, 2008, Neurology.

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.

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

C. Broeckhoven, C. van Broeckhoven, J. Martín, 2004, Neurology.

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

C. van Broeckhoven, J. N. Spelbrink, A. Suomalainen, 2004, Nucleic acids research.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

C. van Broeckhoven, Jean-Jacques Martin, G. van Goethem, 2002, Acta neurologica Belgica.

Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA

C. van Broeckhoven, J. Martín, A. Löfgren, 2000, Journal of medical genetics.

Identification of the tumor metastasis suppressor Nm23-H1/Nm23-R1 as a constituent of the centrosome.

C. Broeckhoven, C. van Broeckhoven, D. Roymans, 2001, Experimental cell research.

No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population

K. Sleegers, C. van Broeckhoven, R. Adolfsson, 2006, Psychiatric genetics.

Progranulin expression correlates with dense‐core amyloid plaque burden in Alzheimer disease mouse models

S. Pereson, C. van Broeckhoven, M. Hutton, 2009, The Journal of pathology.

Loss of progranulin function in frontotemporal lobar degeneration.

Marc Cruts, Christine Van Broeckhoven, C. van Broeckhoven, 2008, Trends in genetics : TIG.

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.

P. Bosco, J. Haines, M. Pericak-Vance, 2010, Journal of Alzheimer's disease : JAD.

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.

C. van Broeckhoven, A. Reis, T. Deufel, 1997, Human molecular genetics.

Detection of tandem duplications and implications for linkage analysis.

J. Lupski, T. Matise, P. Patel, 1994, American journal of human genetics.

New insights on the genetic etiology of Alzheimer’s and related dementia

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2020 .

Large-scale replication and heterogeneity in Parkinson disease genetic loci

J. Ioannidis, M. Farrer, D. Maraganore, 2012, Neurology.

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

K. Sleegers, C. van Broeckhoven, C. Graff, 2017, Acta Neuropathologica Communications.

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

C. van Broeckhoven, N. Haites, E. Nelis, 1999, Human mutation.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

C. van Broeckhoven, J. Martín, W. Hul, 1992, Journal of medical genetics.

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

C. van Broeckhoven, J. Martín, V. Timmerman, 1989, American journal of human genetics.

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

C. Broeckhoven, C. van Broeckhoven, A. Quattrone, 1996, Neurology.

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Archives of neurology.

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

C. van Broeckhoven, B. Rautenstrauss, V. Timmerman, 1999, Neurogenetics.

Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion

B. Asselbergh, C. van Broeckhoven, Rita Cacace, 2022, Acta Neuropathologica Communications.

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2006, American journal of human genetics.

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

C. van Broeckhoven, J. Martín, D. Fitzpatrick, 1997, Journal of neurology, neurosurgery, and psychiatry.

Linkage and mutation analysis of Charcot‐Marie‐Tooth neuropathy type 2 families with chromosomes 1p35‐p36 and Xq13

C. van Broeckhoven, V. Timmerman, E. Nelis, 1996, Neurology.

Patient homozygous for a recessive POLG mutation presents with features of MERRF

S. Seneca, C. van Broeckhoven, J. Martín, 2003, Neurology.

Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease

E. Mariman, C. van Broeckhoven, B. V. van Engelen, 1996, Neurology.

242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.

C. van Broeckhoven, J. D. den Dunnen, M. Bobrow, 1991, Genomics.

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.

C. van Broeckhoven, B. Rautenstrauss, E. Nelis, 1994, Human molecular genetics.

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.

C. van Broeckhoven, N. Haites, V. Timmerman, 1999, Journal of the peripheral nervous system : JPNS.

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

J. Dichgans, C. van Broeckhoven, F. Andres, 1999, Journal of neurology, neurosurgery, and psychiatry.

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.

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

William T. Hu, G. Schellenberg, J. Grafman, 2011, Archives of neurology.

The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics

Christine Van Broeckhoven, Kristel Sleegers, K. Sleegers, 2019, Acta Neuropathologica.

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.

Longer Leukocyte Telomere Length Is Associated with Smaller Hippocampal Volume among Non-Demented APOE ε3/ε3 Subjects

Lars-Göran Nilsson, Thomas Karlsson, Lars Nyberg, 2012, PloS one.

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β′-site increases Aβ generation†

B. de Strooper, K. Sleegers, C. van Broeckhoven, 2011, EMBO molecular medicine.

Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?

C. Broeckhoven, C. van Broeckhoven, J. Theuns, 2008, Genes, brain, and behavior.

Genome-Wide Association Study of Alzheimer’s Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer’s Disease Multimodal Biomarker Discovery Dataset

Jan Homann, K. Blennow, P. Scheltens, 2022, Frontiers in Aging Neuroscience.

Genome-wide association study of Alzheimer's disease brain imaging biomarkers and neuropsychological phenotypes in the EMIF-AD Multimodal Biomarker Discovery dataset

L. Deecke, F. Barkhof, P. Visser, 2021, medRxiv.

Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls.

John Hardy, Samir Kumar-Singh, Christine Van Broeckhoven, 2005, The American journal of pathology.

Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric.

Cornelia M van Duijn, Jean-Pierre Timmermans, Rong Wang, 2002, The American journal of pathology.

Highly efficient gene delivery by mRNA electroporation in human hematopoietic cells: superiority to lipofection and passive pulsing of mRNA and to electroporation of plasmid cDNA for tumor antigen loading of dendritic cells.

C. van Broeckhoven, Z. Berneman, M. Lenjou, 2001, Blood.

α‐Synuclein promoter confers susceptibility to Parkinson's disease

M. Farrer, M. Hulihan, S. Lincoln, 2004 .

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

C. van Broeckhoven, M. Cruts, J. Theuns, 2003, Human molecular genetics.

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.

C. van Broeckhoven, C. Gorbea, L. Ptáček, 2001, Human molecular genetics.

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

C. van Broeckhoven, J. Theuns, A. Verstraeten, 2015, Trends in genetics : TIG.

Pathogenesis of polyglutamine disorders: aggregation revisited.

Christine Van Broeckhoven, C. van Broeckhoven, A. Michalik, 2003, Human molecular genetics.

Genetics and pathology of alpha-secretase site AbetaPP mutations in the understanding of Alzheimer's disease.

C. van Broeckhoven, S. Kumar-Singh, 2006, Journal of Alzheimer's disease : JAD.

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation

A. Hofman, C. Broeckhoven, C. van Broeckhoven, 1998, Acta Neuropathologica.

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

Jonas Persson, Lars-Göran Nilsson, Lars Nyberg, 2006, Brain : a journal of neurology.

Neurogranin as biomarker in CSF is non-specific to Alzheimer's disease dementia

C. van Broeckhoven, S. Engelborghs, P. Cras, 2021, Neurobiology of Aging.

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

C. van Broeckhoven, P. de Jonghe, J. Del-Favero, 1999, Human Genetics.

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

N. Cairns, C. Broeckhoven, C. van Broeckhoven, 1998, American journal of human genetics.

Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy

C. van Broeckhoven, P. van Damme, M. Schrooten, 2015, Neurology: Neuroimmunology & Neuroinflammation.

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

K. Sleegers, C. van Broeckhoven, L. Nilsson, 2007, The journals of gerontology. Series B, Psychological sciences and social sciences.

ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.

J. Hardy, M. Rossor, C. van Broeckhoven, 1998, American journal of medical genetics.

A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.

C. van Broeckhoven, J. Beuten, V. Timmerman, 2000, Genomics.

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.

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

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

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS‐1 mutations that lead to exceptionally high amyloid‐β concentrations

A. Paetau, J. Hardy, M. Swash, 2000, Annals of neurology.

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

C. van Broeckhoven, J. Martín, V. Timmerman, 1994, Journal of medical genetics.

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3–q25.2 and mutation analysis

C. van Broeckhoven, C. Mardin, T. Liehr, 1998, Human Genetics.

Endocytic disturbances distinguish among subtypes of alzheimer's disease and related disorders

C. van Broeckhoven, C. V. van Duijn, N. Bogdanovic, 2001, Annals of neurology.

Contribution of TARDBP to Alzheimer's disease genetic etiology.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2010, Journal of Alzheimer's disease : JAD.

Common variation in GRB‐associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia

Sebastiaan Engelborghs, Christine Van Broeckhoven, Kristel Sleegers, 2009, Human mutation.

IPSC-Derived Neuronal Cultures Carrying the Alzheimer’s Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2020, International journal of molecular sciences.

IPSC-derived neuronal cultures expressing the Alzheimer’s disease associated rare TREM2 R47H variant enables the construction of an Aβ-induced gene regulatory network

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2019, bioRxiv.

The genetics and neuropathology of frontotemporal lobar degeneration

C. van Broeckhoven, S. Engelborghs, P. Boon, 2012, Acta Neuropathologica.

Presenilin‐I polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type

C. Broeckhoven, C. van Broeckhoven, M. van Buchem, 1997, Annals of neurology.

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

P. S. St George-Hyslop, K. Sleegers, C. van Broeckhoven, 2002, American journal of human genetics.

Belgian Fabry Study: Prevalence of Fabry Disease in a Cohort of 1000 Young Patients With Cerebrovascular Disease

C. van Broeckhoven, V. Thijs, F. Eyskens, 2010, Stroke.

The Genetics of C9orf72 Expansions.

C. van Broeckhoven, M. Cruts, I. Gijselinck, 2018, Cold Spring Harbor perspectives in medicine.

Diagnostic Accuracy of Cerebrospinal Fluid Amyloid-β Isoforms for Early and Differential Dementia Diagnosis.

H. Struyfs, K. Sleegers, C. van Broeckhoven, 2015, Journal of Alzheimer's disease : JAD.

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2006, Brain : a journal of neurology.

Longitudinal stability of cerebrospinal fluid biomarker levels: fulfilled requirement for pharmacodynamic markers in Alzheimer's disease.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2013, Journal of Alzheimer's disease : JAD.

APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2009, Human mutation.

No association between CALHM1 and risk for Alzheimer dementia in a Belgian population

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2009, Human mutation.

SORL1 is genetically associated with increased risk for late‐onset Alzheimer disease in the Belgian population

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2008, Human mutation.

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.

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

D. Maraganore, A. Deutschländer, A. Lang, 2014, Neurology.

Cloning and sequence analysis of the gene encoding human lymphocyte prolyl endopeptidase.

G Vriend, G. Vriend, C. Broeckhoven, 1994, Gene.

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

C. van Broeckhoven, S. Engelborghs, Helena Gossye, 2019, Front. Neurosci..

The Cerebrospinal Fluid Aβ1–42/Aβ1–40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer’s Disease in a Clinical Setting

H. Struyfs, K. Sleegers, C. van Broeckhoven, 2017, Journal of Alzheimer's disease : JAD.

Diagnostic accuracy of the Preclinical AD Scale (PAS) in cognitively mildly impaired subjects

P. Scheltens, J. Jolles, P. Visser, 2000, Journal of Neurology.

Cerebrospinal fluid Aβ1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels.

Sylvie Slaets, K. Sleegers, C. van Broeckhoven, 2013, Journal of Alzheimer's disease : JAD.

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and 18F-FDG-PET imaging

H. Struyfs, C. van Broeckhoven, S. Engelborghs, 2019, NeuroImage: Clinical.

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.

Overexpression of ALS-Associated p.M337V Human TDP-43 in Mice Worsens Disease Features Compared to Wild-type Human TDP-43 Mice

C. van Broeckhoven, S. Kumar-Singh, J. Janssens, 2013, Molecular Neurobiology.

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

P. S. St George-Hyslop, R. Mayeux, F. Pasquier, 2012, Molecular Neurodegeneration.

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

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

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

J. Hort, C. van Broeckhoven, G. Kovacs, 2016, Neuropathology : official journal of the Japanese Society of Neuropathology.

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.

Non‐replication of association for six polymorphisms from meta‐analysis of genome‐wide association studies of Parkinson's disease: Large‐scale collaborative study

D. Maraganore, C. van Broeckhoven, J. Lambert, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

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.

Premature termination codon mutations in ABCA7 contribute to Alzheimer's disease risk in Belgian patients

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2021, Neurobiology of Aging.

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

K. Sleegers, C. van Broeckhoven, C. Graff, 2017, Acta neuropathologica communications.

Dutch hereditary cerebral amyloid angiopathy: Structural lesions and apolipoprotein E genotype

C. Broeckhoven, C. van Broeckhoven, M. van Buchem, 1997, Annals of neurology.

Progranulin null mutations in both sporadic and familial frontotemporal dementia

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

Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults.

P. Dupont, K. Sleegers, C. van Broeckhoven, 2017, Cerebral cortex.

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa‐responsive dystonia

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2012, Movement disorders : official journal of the Movement Disorder Society.

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.

Molecular genetics of Alzheimer's disease.

C. van Broeckhoven, M. Cruts, Christine vanBroeckhoven, 1998, Annals of medicine.

Course of objective memory impairment in non‐demented subjects attending a memory clinic and predictors of outcome

J. Jolles, P. Visser, C. van Broeckhoven, 2000, International journal of geriatric psychiatry.

Non-motor symptoms in a Flanders-Belgian population of 215 Parkinson's disease patients as assessed by the Non-Motor Symptoms Questionnaire.

P. Deyn, C. van Broeckhoven, K. Chaudhuri, 2012, American journal of neurodegenerative disease.

Hippocampal Sclerosis in Frontotemporal Dementia: When Vascular Pathology Meets Neurodegeneration.

R. Raedt, C. van Broeckhoven, S. Engelborghs, 2021, Journal of neuropathology and experimental neurology.

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

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

APOE influences on neuropsychological function after mild head injury

L. Nyberg, C. van Broeckhoven, L. Nilsson, 2004, Neurology.

Rare variants in IFFO1, DTNB and NLRC3 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation

P. Scheltens, F. Barkhof, G. Frisoni, 2021, medRxiv.

Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population.

K. Sleegers, C. van Broeckhoven, R. Adolfsson, 2006, Archives of General Psychiatry.

Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer’s Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

C. van Broeckhoven, B. Borroni, C. Giuliani, 2021, Biomedicines.

Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium

D. Maraganore, D. Dickson, C. van Broeckhoven, 2013, Movement disorders : official journal of the Movement Disorder Society.

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies.

Sylvie Slaets, K. Sleegers, C. van Broeckhoven, 2013, Journal of Alzheimer's disease : JAD.

No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease.

Sebastiaan Engelborghs, Christine Van Broeckhoven, Eugeen Vanmechelen, 2007, Brain : a journal of neurology.

Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7)

C. Broeckhoven, C. van Broeckhoven, L. Schöls, 2008, Neuropathology and applied neurobiology.

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

C. van Broeckhoven, K. Verhoeven, V. Timmerman, 2002, Journal of the peripheral nervous system : JPNS.

Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentration.

C. van Broeckhoven, R. Roos, S. Younkin, 2003, Neurobiology of disease.

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.

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

B. Asselbergh, C. van Broeckhoven, S. Engelborghs, 2021, Acta Neuropathologica Communications.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

C. Broeckhoven, C. van Broeckhoven, A. Dürr, 2001, Brain : a journal of neurology.

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.

The apolipoprotein E ε4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations

C. van Broeckhoven, C. V. van Duijn, J. V. van Swieten, 1994, Annals of neurology.

The Association between APOE Genotype and Memory Dysfunction in Subjects with Mild Cognitive Impairment Is Related to Age and Alzheimer Pathology

J. Jolles, P. Visser, K. Sleegers, 2008, Dementia and Geriatric Cognitive Disorders.

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

M. Farrer, D. Maraganore, A. Deutschländer, 2015, Neurology.

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.

Autosomal dominant striatal degeneration (ADSD)

M. Hund-Georgiadis, C. van Broeckhoven, G. Schuierer, 2004, Neurology.

Altered brain white matter integrity in healthy carriers of the APOE ε4 allele

L Nyberg, M Ingvar, L. Nyberg, 2006, Neurology.

SSHSuite: an integrated software package for analysis of large-scale suppression subtractive hybridization data.

Jurgen Del-Favero, Stefan Weckx, Peter De Rijk, 2004, BioTechniques.

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

C. van Broeckhoven, J. Meuleman, V. Timmerman, 1997, Neurology.

The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics

R. Dobson, J. Molinuevo, P. Scheltens, 2018, Alzheimer's Research & Therapy.

Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

P. Dupont, K. Sleegers, C. van Broeckhoven, 2022, Alzheimer's & dementia.

Microglial Upregulation of Progranulin as a Marker of Motor Neuron Degeneration

D. Lambrechts, K. Sleegers, C. van Broeckhoven, 2010, Journal of neuropathology and experimental neurology.

α-Synuclein gene duplications in sporadic Parkinson disease

C. van Broeckhoven, J. Theuns, 2008, Neurology.

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects

P. Lewczuk, C. van Broeckhoven, S. Engelborghs, 2019, Journal of Alzheimer's disease : JAD.

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.

MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study

J. Molinuevo, P. Scheltens, O. Blin, 2018, Alzheimer's Research & Therapy.

Altered brain white matter integrity in healthy carriers of the APOE epsilon4 allele: a risk for AD?

L Nyberg, M Ingvar, L. Nyberg, 2006, Neurology.

Parietal cortex activation predicts memory decline in apolipoprotein E-ϵϵ4 carriers

Jonas Persson, Lars-Göran Nilsson, Lars Nyberg, 2006, Neuroreport.

Serum Daytime Melatonin Levels Reflect Cerebrospinal Fluid Melatonin Levels in Alzheimer’s Disease but Are Not Correlated with Cognitive Decline

C. van Broeckhoven, S. Engelborghs, G. Nagels, 2021, Journal of Alzheimer's disease : JAD.

Pure progressive amnesia as variant of genetically proven Alzheimer disease

C. van Broeckhoven, I. Massat, M. Abramowicz, 2009, European journal of neurology.

Classical Friedreich’s Ataxia and Its Genotype

C. van Broeckhoven, K. Storm, F. Palau, 1999, European Neurology.

Brain-specific tryptophan hydroxylase, TPH2, and 5-HTTLPR are associated with frontal lobe symptoms in Alzheimer's disease.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2013, Journal of Alzheimer's disease : JAD.

Alzheimer's disease: identification of genes and genetic risk factors.

C. van Broeckhoven, 1998, Progress in brain research.

WT1 MUTATION IN MALIGNANT MESOTHELIOMA AND WT1 IMMUNOREACTIVITY IN RELATION TO p53 AND GROWTH FACTOR RECEPTOR EXPRESSION, CELL‐TYPE TRANSITION, AND PROGNOSIS

E. van Marck, C. van Broeckhoven, H. Backhovens, 1997, The Journal of pathology.

Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration

C. van Broeckhoven, A. Sieben, Helena Gossye, 2023, Neurobiology of Aging.

Genetic Testing Has No Place as a Routine Diagnostic Test in Sporadic and Familial Cases of Alzheimer's Disease

C. van Broeckhoven, C. V. van Duijn, M. Cruts, 2004, Journal of the American Geriatrics Society.

CXCR4 involvement in neurodegenerative diseases

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

CHAPTER 56 – Frontotemporal Dementia

C. Broeckhoven, K. Sleegers, C. van Broeckhoven, 2010 .

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

M. T. Pellecchia, C. van Broeckhoven, P. Barone, 2009, Movement disorders : official journal of the Movement Disorder Society.

Amyloid-β-protein isoforms in brain of subjects with PS1-linked, βAPP-linked and sporadic Alzheimer disease

D. Pollen, A. Roses, R. Sherrington, 1998 .

Mutated Toll-like receptor 9 increases Alzheimer’s disease risk by compromising innate immunity protection

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2023, Molecular psychiatry.

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2018, Stem cell research.

Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2018, Stem cell research.

Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2016, Stem cell research.

Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2016, Stem cell research.

Lymphoblast-derived integration-free iPS cell line from a 69-year-old male.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2016, Stem cell research.

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA

C. van Broeckhoven, J. D. den Dunnen, M. Cruts, 1999, Mammalian Genome.

Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24

C. van Broeckhoven, J. Beuten, V. Timmerman, 1999, Annals of the New York Academy of Sciences.

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

C. van Broeckhoven, J. Meuleman, B. Falck, 2001, Journal of Neurology.

A beta A4 amyloid precursor protein gene and Alzheimer's disease.

C. van Broeckhoven, L. Hendriks, 1996, European journal of biochemistry.

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease.

D. Pollen, A. Roses, R. Sherrington, 1998, Brain Research. Molecular Brain Research.

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.

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila.

S. Aerts, C. van Broeckhoven, J. Lambert, 2013, Cell reports.

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

Genetic, Nick C Fox, Michelle K. Lupton, 2019, Nature Genetics.

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

M. Nalls, A. Singleton, T. Wolfsberg, 2013, JAMA neurology.

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.

Transmission and age-at-onset patterns in familial Alzheimer??s disease: evidence for heterogeneity

J. Growdon, M. Rossor, L. Farrer, 1991 .

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

C. van Broeckhoven, M. Cruts, H. Backhovens, 2001, American journal of medical genetics.

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.

Diagnostic Accuracy of Cerebrospinal Fluid Amyloid-β Isoforms for Early and Differential Dementia Diagnosis.

H. Struyfs, K. Sleegers, C. van Broeckhoven, 2015, Journal of Alzheimer's disease : JAD.

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.

Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration

C. van Broeckhoven, A. Sieben, Helena Gossye, 2023, Neurobiology of Aging.

Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins

C. van Broeckhoven, A. Ekici, M. Schachner, 2002, BMC Cell Biology.

Molecular genetics of Alzheimer disease : identification of genes and gene mutations

C. Broeckhoven, C. van Broeckhoven, 1995 .

Associating Alzheimer's disease pathology with its cerebrospinal fluid biomarkers.

H. Struyfs, C. van Broeckhoven, S. Engelborghs, 2022, Brain : a journal of neurology.

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease

K. Sleegers, C. van Broeckhoven, M. Hulsman, 2023, medRxiv.

Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer’s disease

P. Deyn, B. Bergmans, C. Broeckhoven, 2020, Neurobiology of Aging.

Autosornal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths

C. van Broeckhoven, A. Quattrone, A. Gambardella, 1996, Neurology.

Frontotemporal Lobar Degeneration: Current Concepts in the Light of Recent Advances

C. van Broeckhoven, S. Kumar-Singh, 2007, Brain pathology.

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA)

C. van Broeckhoven, J. Meuleman, V. Timmerman, 2001, Human Genetics.

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

C. van Broeckhoven, K. Van Laere, W. Vandenberghe, 2009, Movement disorders : official journal of the Movement Disorder Society.

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.

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

K. Sleegers, C. van Broeckhoven, J. Adjaye, 2018, Stem cell research.

TMEM106B a Novel Risk Factor for Frontotemporal Lobar Degeneration

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