Locus‐specific mutation databases for neurodegenerative brain diseases

Marc Cruts, Jessie Theuns, Christine Van Broeckhoven

Human Mutation

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

Kristel Sleegers, Nathalie Brouwers, Ilse Gijselinck, +7

Brain

Genomic App DuplicationCerebral Amyloid AngiopathyGeneticsGene Locus DuplicationsNeurochemical Biomarkers +17

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

Owen A. Ross, Alexandra I. Soto‐Ortolaza, Michael G. Heckman, +57

The Lancet Neurology

Case–control StudyParkinson DiseaseLrrk2 Exonic VariantsNeurologyNeuroscience +3

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

Samir Kumar‐Singh, Jessie Theuns, Bianca Van Broeck, +7

Human Mutation

App ProcessingAgingBrain AbPathologyNeurochemical Biomarkers +20

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

Bart Dermaut, Samir Kumar‐Singh, S. Engelborghs, +13

Annals of Neurology

Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

Jessie Theuns, Nathalie Brouwers, Sebastiaan Engelborghs, +7

The American Journal of Human Genetics

Neurodegenerative DiseasesAlzheimer's DiseaseGeneticsDegenerative PathologyProtein Misfolding +5

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3

Marc Cruts, Hubert Backhovens, Shengyue Wang, +14

Human Molecular Genetics

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

Rosa Rademakers, Stacey Melquist, Marc Cruts, +24

Human Molecular Genetics

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Kristoffer Haugarvoll, Rosa Rademakers, Jennifer M. Kachergus, +30

Neurology

Alzheimer and Parkinson Diagnoses in Progranulin Null Mutation Carriers in an Extended Founder Family

Nathalie Brouwers, Karen Nuytemans, Julie van der Zee, +23

Archives of Neurology