Penelope Roques

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Alison Goate, Marie‐Christine Chartier‐Harlin, Jeremy Brown et al. · Nature · 1991 · 4.6K citations

Life Sciences, Genetics, Molecular Genetics +16

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

Marie‐Christine Chartier‐Harlin, Fiona Crawford, Henry Houlden et al. · Nature · 1991 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +16

Apolipoprotein E, ɛ4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region

Marie‐Christine Chartier‐Harlin, Matthew Parfitt, Sylvle Legrain et al. · Human Molecular Genetics · 1994 · 435 citations

Life Sciences, Genetics, Neurology +17

A mutation in Alzheimerʼs disease destroying a splice acceptor site in the presenilin-1 gene

Jordi Pérez‐Tur, Susanne Froelich, Guy Prihar et al. · Neuroreport · 1995 · 256 citations

Life Sciences, Genetics, Molecular Genetics +16

Deficits in cerebral glucose metabolism demonstrated by positron emission tomography in individuals at risk of familial Alzheimer's disease

Angus Kennedy, R. S. J. Frackowiak, Sarah Newman et al. · Neuroscience Letters · 1995 · 250 citations

Medicine, Neurology, Neuroscience +16