M. Van den Broeck

发表

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.

Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging

I. Mackenzie, M. Baker, M. Neumann, 2022, Acta Neuropathologica.

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.

A chromosome 18 genetic linkage study in three large Belgian pedigrees with bipolar disorder.

S. Claes, J. Cassiman, C. van Broeckhoven, 1997, Journal of affective disorders.

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.

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.

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.

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

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

Genetic contribution of FUS to frontotemporal lobar degeneration

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

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

A Hofman, A. Hofman, J. Hardy, 1998, Human molecular genetics.

Octapeptide repeat insertions in the prion protein gene and early onset dementia

J. Houwing-Duistermaat, K. Sleegers, C. V. van Duijn, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

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

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

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

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.

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.

α‐Synuclein promoter confers susceptibility to Parkinson's disease

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

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.

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

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

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

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

Alzheimer dementia caused by a novel mutation located in the APP C‐terminal intracytosolic fragment

B. Strooper, B. de Strooper, C. Broeckhoven, 2006, Human mutation.

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.

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.

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

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

Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme

C. Broeckhoven, S. Engelborghs, P. Mariën, 2003, Journal of medical genetics.

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

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

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.

C. Duijn, C. Broeckhoven, C. V. van Duijn, 2000, Human molecular genetics.

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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

Progranulin null mutations in both sporadic and familial frontotemporal dementia

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

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.

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

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

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

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

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.

Early cognitive decline is associated with prion protein codon 129 polymorphism

A. Hofman, J. Houwing-Duistermaat, C. V. van Duijn, 2003, Annals of neurology.

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.

Methylmap: visualization of modified nucleotides for large cohort sizes

D. Dickson, Wouter De Coster, M. Strazisar, 2022, bioRxiv.

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

A. Hofman, C. V. van Duijn, M. Cruts, 2003, Annals 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.

Limbic-predominant age-related TDP-43 proteinopathy (LATE-NC) is associated with abundant TMEM106B pathology

G. Hsiung, I. Mackenzie, M. Neumann, 2023, Acta Neuropathologica.

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family

K. Sleegers, C. V. van Duijn, M. Cruts, 2004, Neurogenetics.

Pure progressive amnesia as variant of genetically proven Alzheimer disease

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

C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.

I. Mackenzie, B. Heeman, Jolien Perneel, 2023, Brain : a journal of neurology.

Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population

H. Soininen, A. Mannermaa, M. Hiltunen, 2004, Neurology.

Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease.

M. Cruts, G. Roks, C. van Broeckhoven, 2001, Neuroscience letters.

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

P. Mariën, M. Cruts, S. Serneels, 2003 .

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.

TheTNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease

L. Feuk, A. Brookes, C. V. van Duijn, 2001, Human Genetics.