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In-depth phenotypic description of TBK1 mutations ; a frequent cause of FTD and ALS in the Flanders-Belgian population
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Extensive genetic and phenotypic description of MAPT p.R406W in the Flanders-Belgian population
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Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease
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- Journal Article
- A1
- open access
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
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- Journal Article
- A1
- open access
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
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Diffusion Kurtosis imaging: a possible MRI biomarker for AD diagnosis?
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Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology
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Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
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Glucocorticoid receptor gene-based SNP analysis in patients with recurrent major depression
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A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
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The molecular genetics of early-onset Alzheimer's disease
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Mutation analysis of candidate genes for chromosome 17-linked tau-negative FTD
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Neuropathological and biochemical characterization of a familial FTD patient carrying PS1 GLY183VAL
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Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population
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Octapeptide repeat insertions in the prion protein gene and early onset dementia
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A major SNP haplotype of the arginine vasopressin 1B receptor protects against recurrent major depression
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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
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A straightforward approach to evaluate false positive associations in studies of gene interaction
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Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in western Europe
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A whole gene based SNP study of the AVP 1B receptor gene: A possible protective effect in the etiology of major depression
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Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects
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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
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Effect of APOE genotype on behavioral and psychological signs and symptoms of dementia
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Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): no effect of APOE genotype
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Familial dementia caused by MAPT R406W clinically resembles Alzheimer's disease
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Novel German APP V715A mutation associated with presenile Alzheimer's disease
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Homozygosity of valine at PRNP codon 129 is associated with early onset Alzheimer's disease in a Dutch population based sample
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Atypical clinical phenotype in a 2 octapeptide repeat insert mutation in the prion protein gene
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In vitro analysis of Alzheimer's disease-related presenilin 1 and 2 mutations: effect on beta-amyloid processing
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Systematic analysis of the effect of novel Alzheimer disease PS1/2 mutations on A beta secretion
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Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the Rotterdam study
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Tau negative frontal lobe dementia at 17q21 : significant finemapping of the candidate region to a 4.8 cM interval
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Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval
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Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval
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Tau negative frontal lobe dementia at 17q21: significant finernapping of the candidate region to a 4.8cM interval
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Nicastrin significantly modifies risk for familial early-onset Alzheimer's disease in a Dutch population based sample
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Mutated POLG associated with progressive external ophtalmoplegia characterised by multiple mtDNA deletions
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Homozygosity of the prion Met129Val polymorphism increases risk of developing clinical early-onset but not late-onset Alzheimer's disease
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The cystatin C polymorphism is not associated with early onset Alzheimer's disease
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Chromosome 17 linked dementia in the absence of tau mutations
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Amyloid beta-secretase gene (BACE) is neither mutated nor associated with early-onset Alzheimers disease
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Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation
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Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease
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The α2-macroglobulin gene in AD : a population-based study and meta-analysis
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Polymorphisms in the 5' regulatory region of presenilin 1 associated with an increased risk for early-onset Alzheimers disease
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Alzheimer's disease associated presenilin 1 interacts with HC5 and ZETA, subunits of the catalytic 20S proteasome.
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Identification of caspases that cleave presenilin-1 and presenilin-2 - Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases.
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Glu318gly in presenilin-1 is a neutral mutation in relation to dementia: the Rotterdam study
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Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimers disease by increased a beta 42 secretion
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Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity
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Charcot-Marie-Tooth disease: an intermediate form.
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Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.