Karin Axelman

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

Fiona Crawford, Karin Axelman, Henry Houlden et al. · Nature Genetics · 1992 · 1.5K citations

Pathogenic Mutation, Neurodegenerative Diseases, Probable Alzheimer +12

The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Aβ protofibril formation

Camilla Nilsberth, Anita Westlind‐Danielsson, Christopher B. Eckman et al. · Nature Neuroscience · 2001 · 1.2K citations

Neurodegenerative Diseases, Alzheimer's Disease, Molecular Neuroscience +14

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 · 470 citations

Allelic Variant, Genetic Disorder, Genetics +7

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

Alzheimerʼs Disease, Genetics, Molecular Biology +18

Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease

Hans Basun, Nenad Bogdanović, Martin Ingelsson et al. · Archives of Neurology · 2008 · 113 citations · Full text