Frances Busfield

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

Complete analysis of the presenilin 1 gene in early onset Alzheimerʼs disease

Mike Hutton, Frances Busfield, Michelle Wragg et al. · Neuroreport · 1996 · 152 citations

Genetics, Neurochemical Biomarkers, Disease Gene Identification +18

Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22

Corinne Lendon, Timothy Lynch, Joanne Norton et al. · Neurology · 1998 · 143 citations

The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients

Katherine Stuart, Frances Busfield, Elizabeth C. Jazwinska et al. · Journal of Hepatology · 1998 · 128 citations

C282y Mutation, Genetics, Pathogenesis +7