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Martin N. Rossor

Researcher at UCL Institute of Neurology

Publications -  676
Citations -  107431

Martin N. Rossor is an academic researcher from UCL Institute of Neurology. The author has contributed to research in topics: Dementia & Alzheimer's disease. The author has an hindex of 128, co-authored 670 publications receiving 95743 citations. Previous affiliations of Martin N. Rossor include University of Cambridge & University of Arizona.

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

TL;DR: A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene as discussed by the authors, which suggests that some cases of AD could be caused by mutations in the APP gene.

Segregation of a missense mutation in the amyloid precursor protein gene with familial alzheimers-disease

TL;DR: It is demonstrated that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene that causes an amino-acid substitution close to the carboxy terminus of the β-amyloid peptide.