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B. Dermaut · SciRah

Researcher profile · Semantic Scholar

B. Dermaut

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B. Dermaut — researcher profile on SciRah

h-index: 47
Works: 130
Citations: 7,979

Most-cited papers

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
M. Cruts, I. Gijselinck, J. van der Zee, S. Engelborghs +18 more
2006Nature1,512 citations
Semantic Scholar
Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
S. Engelborghs, B. Dermaut, J. Goeman, J. Saerens +7 more
2003Journal of Medical Genetics351 citations Open access
Semantic Scholar
Mean age‐of‐onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40
S. Kumar-Singh, J. Theuns, B. Van Broeck, D. Pirici +6 more
2006Human Mutation338 citations Open access
Semantic Scholar
A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques
B. Dermaut, S. Kumar-Singh, S. Engelborghs, J. Theuns +12 more
2004Annals of Neurology224 citations
Semantic Scholar
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
S. Weckhuysen, Elise Marsan, V. Lambrecq, C. Marchal +14 more
2016Epilepsia179 citations Open access
Semantic Scholar
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
J. van der Zee, H. Urwin, S. Engelborghs, M. Bruyland +10 more
2008Human Molecular Genetics174 citations Open access
Semantic Scholar
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
N. Brouwers, K. Nuytemans, J. van der Zee, I. Gijselinck +22 more
2007Archives of Neurology156 citations
Semantic Scholar
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
G. Van Goethem, M. Schwartz, A. Löfgren, B. Dermaut +2 more
2003European Journal of Human Genetics155 citations
Semantic Scholar
Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer
B. Dermaut, K. Norga, Artur Kania, Patrik Verstreken +4 more
2005Journal of Cell Biology153 citations Open access
Semantic Scholar
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes
Danielle C. Diaper, Yoshitsugu Adachi, Ben Sutcliffe, Dickon M. Humphrey +10 more
2013Human Molecular Genetics135 citations Open access
Semantic Scholar
TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?
Lies Vanden Broeck, P. Callaerts, B. Dermaut
2014Trends in Molecular Medicine127 citations Open access
Semantic Scholar
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
J. van der Zee, I. Le Ber, S. Maurer-Stroh, S. Engelborghs +22 more
2007Human Mutation123 citations Open access
Semantic Scholar
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
J. van der Zee, T. Van Langenhove, G. Kovacs, Lubina Dillen +76 more
2014Acta Neuropathologica116 citations Open access
Semantic Scholar
Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity
Fabien Théry, Lia Martina, Caroline Asselman, Yifeng Zhang +22 more
2021Nature Communications114 citations Open access
Semantic Scholar
PRNP Val129 homozygosity increases risk for early‐onset Alzheimer's disease
B. Dermaut, Esther A. Croes, R. Rademakers, M. Van den Broeck +4 more
2003Annals of Neurology107 citations Open access
Semantic Scholar
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval
R. Rademakers, M. Cruts, B. Dermaut, M. Van den Broeck +6 more
2002Molecular Psychiatry107 citations
Semantic Scholar
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
J. van der Zee, I. Gijselinck, S. Van Mossevelde, F. Perrone +77 more
2017Human Mutation101 citations Open access
Semantic Scholar
Moyamoya disease emerging as an immune-related angiopathy.
Caroline Asselman, D. Hemelsoet, Denzel Eggermont, B. Dermaut +1 more
2022Trends in Molecular Medicine95 citations Open access
Semantic Scholar
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese, V. Shashi, R. Spillmann, N. Stong +39 more
2018American Journal of Human Genetics95 citations Open access
Semantic Scholar
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.
I. Gijselinck, K. Sleegers, S. Engelborghs, W. Robberecht +13 more
2009Neurobiology of Aging90 citations
Semantic Scholar
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
M. Cruts, R. Rademakers, I. Gijselinck, J. van der Zee +5 more
2005Human Molecular Genetics90 citations
Semantic Scholar
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
J. van der Zee, R. Rademakers, S. Engelborghs, I. Gijselinck +13 more
2006Brain : a journal of neurology86 citations Open access
Semantic Scholar
Tau phosphorylation regulates the interaction between BIN1’s SH3 domain and Tau’s proline-rich domain
Y. Sottejeau, A. Bretteville, F. Cantrelle, Nicolas Malmanche +14 more
2015Acta Neuropathologica Communications77 citations Open access
Semantic Scholar
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe
R. Rademakers, B. Dermaut, K. Peeters, M. Cruts +3 more
2003Human Mutation75 citations
Semantic Scholar
Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle
G. Van Goethem, A. Löfgren, B. Dermaut, C. Ceuterick +2 more
2003Human Mutation73 citations Open access
Semantic Scholar
Drosophila Models of Tauopathies: What Have We Learned?
Marc Gistelinck, J. Lambert, P. Callaerts, B. Dermaut +1 more
2012International Journal of Alzheimer's Disease70 citations Open access
Semantic Scholar
Octapeptide repeat insertions in the prion protein gene and early onset dementia
Esther A. Croes, J. Theuns, J. J. Houwing-Duistermaat, B. Dermaut +8 more
2004Journal of Neurology Neurosurgery & Psychiatry70 citations Open access
Semantic Scholar
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
P. Santens, T. Van Damme, W. Steyaert, A. Willaert +4 more
2015Neurology67 citations
Semantic Scholar
TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila.
Lies Vanden Broeck, M. Naval-Sánchez, Yoshitsugu Adachi, Danielle C. Diaper +10 more
2013Cell Reports64 citations Open access
Semantic Scholar
Dose dependent effect of APOE ε4 on behavioral symptoms in frontal lobe dementia
S. Engelborghs, B. Dermaut, P. Mariën, A. Symons +10 more
200664 citations
Semantic Scholar
The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects
Erwan Lambert, Orthis Saha, Bruna Soares Landeira, Ana Raquel Melo de Farias +18 more
2021Acta Neuropathologica Communications58 citations Open access
Semantic Scholar
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
B. Dermaut, S. Kumar-Singh, R. Rademakers, J. Theuns +2 more
2005Trends in Genetics58 citations Open access
Semantic Scholar
Vagus nerve stimulation for refractory status epilepticus.
V. De Herdt, L. Waterschoot, K. Vonck, B. Dermaut +5 more
2009European journal of paediatric neurology53 citations
Semantic Scholar
ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease
Florent Letronne, G. Laumet, A. Ayral, J. Chapuis +37 more
2016EBioMedicine52 citations Open access
Semantic Scholar
Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.
R. Rademakers, M. Cruts, K. Sleegers, B. Dermaut +11 more
2005American Journal of Human Genetics51 citations Open access
Semantic Scholar
Characterization of Ubiquitinated Intraneuronal Inclusions in a Novel Belgian Frontotemporal Lobar Degeneration Family
D. Pirici, R. Vandenberghe, R. Rademakers, B. Dermaut +8 more
2006Journal of Neuropathology and Experimental Neurology50 citations
Semantic Scholar
The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.
B. Dermaut, J. Theuns, K. Sleegers, H. Hasegawa +7 more
2002American Journal of Human Genetics49 citations Open access
Semantic Scholar
HDAC6 is a Bruchpilot deacetylase that facilitates neurotransmitter release.
K. Miśkiewicz, L. Jose, Wondwossen M. Yeshaw, J. S. Valadas +5 more
2014Cell Reports47 citations Open access
Semantic Scholar
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt–Jakob disease
E. Croes, B. Alizadeh, A. Bertoli-Avella, Tessa Rademaker +7 more
2004European Journal of Human Genetics44 citations Open access
Semantic Scholar
Early cognitive decline is associated with prion protein codon 129 polymorphism
Esther A. Croes, B. Dermaut, J. J. Houwing-Duistermaat, M. Van den Broeck +5 more
2003Annals of Neurology44 citations Open access
Semantic Scholar
Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.
S. Engelborghs, B. Dermaut, P. Mariën, A. Symons +10 more
2006Neurobiology of Aging39 citations
Semantic Scholar
Developmental Expression of 4-Repeat-Tau Induces Neuronal Aneuploidy in Drosophila Tauopathy Models
Nicolas Malmanche, P. Dourlen, Marc Gistelinck, Florie Demiautte +14 more
2017Scientific Reports35 citations Open access
Semantic Scholar
Novel APP mutation V715A associated with presenile Alzheimer’s disease in a German family
M. Cruts, B. Dermaut, R. Rademakers, M. Van den Broeck +2 more
2003Journal of Neurology34 citations
Semantic Scholar
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions
Lauren Versluys, Pedro Ervilha Pereira, N. Schuermans, B. De Paepe +3 more
2022Frontiers in Neuroscience30 citations Open access
Semantic Scholar
Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer’s disease
Elena S. Gusareva, J. Twizere, K. Sleegers, P. Dourlen +27 more
2018Neurobiology of Aging30 citations Open access
Semantic Scholar
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
N. Schuermans, D. Hemelsoet, W. Terryn, S. Steyaert +21 more
2022Orphanet Journal of Rare Diseases29 citations Open access
Semantic Scholar
Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.
Lies Vanden Broeck, G. Kleinberger, J. Chapuis, Marc Gistelinck +5 more
2015Neurobiology of Aging29 citations Open access
Semantic Scholar
Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism: possible implication for Alzheimer's disease.
M. Denéchaud, Sarah Geurs, Thomas Comptdaer, S. Bégard +18 more
2022Progress in neurobiology28 citations Open access
Semantic Scholar
The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years.
N. Brouwers, K. Sleegers, S. Engelborghs, Veerle Bogaerts +4 more
2006Neuroscience Letters28 citations
Semantic Scholar
Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study.
G. Roks, M. Cruts, J. J. Houwing-Duistermaat, B. Dermaut +6 more
2002American journal of medical genetics26 citations Open access
Semantic Scholar

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C. van Broeckhoven×31
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M. Cruts×24
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M. Van den Broeck×16
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R. Rademakers — researcher profile on SciRah

S. Engelborghs×12

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R. Vandenberghe — researcher profile on SciRah

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