Heiko Wiebusch

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

Harald Funke, Arnold von Eckardstein, P. Haydn Pritchard et al. · Journal of Clinical Investigation · 1993 · 90 citations · Full text

Genetics, Genetic Epidemiology, Pathology +21

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

Peter Young, Heiko Wiebusch, Florian Stögbauer et al. · Neurology · 1997 · 74 citations

Further evidence for a synergistic association between APOE ?4 and BCHE -K in confirmed Alzheimer's disease

Heiko Wiebusch, Judes Poirier, Pierre S�vigny et al. · Human Genetics · 1999 · 70 citations

Alzheimer's Disease, Bche -K, Synergistic Association +9

The replacement of arginine by cysteine at residue 151 in Apolipoprotein A-I produces a phenotype similar to that of Apolipoprotein A-I Milano

Éric Bruckert, Arnold von Eckardstein, Harald Funke et al. · Atherosclerosis · 1997 · 62 citations

Biochemistry, Natural Sciences, Apolipoprotein A-i Milano +7

A unique genetic and biochemical presentation of fish-eye disease.

J.A. Kuivenhoven, E J van Voorst tot Voorst, Heiko Wiebusch et al. · Journal of Clinical Investigation · 1995 · 61 citations · Full text

Ocular Disease, Genetics, Genetic Epidemiology +20