76 Result(s)
within
Sebastiaan Engelborghs
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Article
Crossed cerebellar diaschisis and hemiataxia after thalamic hemorrhage
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Article
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Two groups of neuroscientists have discovered that a mutation in the progranulin gene, which encodes a growth factor, can cause frontotemporal dementia (FTD). The condition, the second most common form of deme...
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Article
Association study of cholesterol-related genes in Alzheimer’s disease
Alzheimer’s disease (AD) is a genetically complex disorder, and several genes related to cholesterol metabolism have been reported to contribute to AD risk. To identify further AD susceptibility genes, we have...
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Article
Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Nat. Genet. 41, 1088–1093 (2009); published online 6 September; corrected after print 28 September 2009 In the version of this article initially published, the name of the first author of reference 12 was stat...
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Article
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
Philippe Amouyel and colleagues report a genome-wide association study for Alzheimer's disease. They identify variants within CLU and CR1 associated with susceptibility to late-onset Alzheimer's disease.
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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Julie Williams and colleagues report a genome-wide association study for Alzheimer's disease. They identify variants at the CLU and PICALM loci associated with susceptibility to late-onset Alzheimer's disease.
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Chapter
14 Oedeem bij patiënten met een CVA
Oedeemvorming bij CVA-patiënten is een reëel probleem, vooral in de bovenste extremiteit. Het oedeem ontstaat in de eerste weken na het CVA. Dit is tijdens de intensieve fase van de revalidatie. Het oedeem gee...
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Open AccessFUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis...
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Article
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Julie Williams, Michael Owen and colleagues report staged follow-up and meta-analyses of genome-wide association studies for Alzheimer's disease from the GERAD+ consortium. They identify common variants at ABCA7 ...
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Article
Serum Glutamine Synthetase Has No Value as a Diagnostic Biomarker for Alzheimer’s Disease
In order to test whether serum glutamine synthetase (GS) is of potential diagnostic value for Alzheimer’s disease (AD), we set up a study to compare serum GS concentrations between AD patients and control subj...
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Open AccessBoth common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk
We have followed-up on the recent genome-wide association (GWA) of the clusterin gene (CLU) with increased risk for Alzheimer disease (AD), by performing an unbiased resequencing of all CLU coding exons and regul...
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Open AccessRecommendations for the treatment of epilepsy in adult patients in general practice in Belgium: an update
In 2008, a group of Belgian epilepsy experts published recommendations for antiepileptic drug (AED) treatment of epilepsies in adults and children. Selection of compounds was based on the registration and reim...
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Article
Open AccessThe genetics and neuropathology of frontotemporal lobar degeneration
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders characterized by disturbances of behavior and personality and different types of language impairment with or without concomitant f...
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Mastication Dyspraxia: A Neurodevelopmental Disorder Reflecting Disruption of the Cerebellocerebral Network Involved in Planned Actions
This paper reports the longitudinal clinical, neurocognitive, and neuroradiological findings in an adolescent patient with nonprogressive motor and cognitive disturbances consistent with a diagnosis of develop...
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Article
Open AccessPromoter DNA methylation regulates progranulin expression and is altered in FTLD
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of neurodegenerative diseases associated with personality changes and progressive dementia. Loss-of-function mutations in the growth factor pro...
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Article
Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Nat. Genet. 41, 1088–1093 (2009); published online 6 September 2009; corrected after print 9 May 2013 In the version of this article initially published, Reinhard Heun was not included in the author list. This...
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Article
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common...
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Article
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
Heterozygous loss-of-function mutations in the progranulin (GRN) gene and the resulting reduction of GRN levels is a common genetic cause for frontotemporal lobar degeneration (FTLD) with accumulation of TAR DNA-...
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Open AccessRare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding se...
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Prolyl Carboxypeptidase Activity Decline Correlates with Severity and Short-Term Outcome in Acute Ischemic Stroke
Prolyl carboxypeptidase (PRCP) is an enzyme associated with cerebrovascular risk factors such as hypertension, diabetes mellitus, obesity and hyperlipidemia. We aim to evaluate the relation between serum PRCP ...
