Familial dementia due to a frameshift mutation in the caeruloplasmin gene

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

[1] Role of free radicals and catalytic metal ions in human disease: An overview

1990 • 5,041 citations

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

1991 • 4,533 citations

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1995 • 3,985 citations

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

1995 • 550 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

1995 • 456 citations

The role of ceruloplasmin in iron metabolism

1970 • 360 citations

Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family

1995 • 242 citations

The Mobilization of Iron from the Perfused Mammalian Liver by a Serum Copper Enzyme, Ferroxidase I

1971 • 237 citations

Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin.

1991 • 188 citations

Iron regulation in the brain: Histochemical, biochemical, and molecular considerations

1992 • 172 citations

Homozygosity for Hemochromatosis: Clinical Manifestations

1980 • 154 citations

Primary structure of rat ceruloplasmin and analysis of tissue-specific gene expression during development.

1990 • 136 citations

Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease

1996 • 116 citations

Mechanisms of caeruloplasmin biosynthesis in normal and copper-deficient rats

1992 • 110 citations

Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus

1994 • 57 citations

Idiopathic hemochromatosis (IHC)

1983 • 38 citations