Frances Busfield
University of Queensland(AU)Prince Charles Hospital(AU)
Publications by Year
Research Areas
Alzheimer's disease research and treatments, Iron Metabolism and Disorders, Folate and B Vitamins Research, Porphyrin Metabolism and Disorders, Computational Drug Discovery Methods
Most-Cited Works
- → The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families(1995)476 cited
- → A mutation in Alzheimerʼs disease destroying a splice acceptor site in the presenilin-1 gene(1995)256 cited
- → Complete analysis of the presenilin 1 gene in early onset Alzheimerʼs disease(1996)152 cited
- → Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22(1998)143 cited
- → The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients(1998)128 cited
- → E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles(1997)98 cited
- → A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians(2002)89 cited
- → Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23(2002)87 cited
- → Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees(2004)62 cited
- → Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14(2006)58 cited