A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: Clinical, neuroimaging, and neuropathological findings

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Robin Sherrington, Yuh‐Jin Liang, Ekaterina Rogaeva et al. · Nature · 1995 · 4K citations

Life Sciences, Genetics, Molecular Genetics +14

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

Dominique Campion, Cécile Dumanchin, Didier Hannequin et al. · The American Journal of Human Genetics · 1999 · 788 citations · Full text

Life Sciences, Genetics, Neurology +16

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

Ilse Gijselinck, Tim Van Langenhove, Julie van der Zee et al. · The Lancet Neurology · 2011 · 628 citations

Life Sciences, Genetics, Molecular Genetics +16

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Robert Clark, M. Hutton, M. Fuldner et al. · Nature Genetics · 1995 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations of the <i>presenilin I</i> gene in families with early-onset Alzheimer's disease

Dominique Campion, Jean‐Michel Flaman, Alexis Brice et al. · Human Molecular Genetics · 1995 · 281 citations

Life Sciences, Genetics, Molecular Genetics +17