H. Wiebusch

发表

HLA class I, II & III genes in confirmed late-onset Alzheimer’s disease

K. Morgan, A. Smith, D. Lehmann, 2001, Neurobiology of Aging.

Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography.

G. Breithardt, W. Haverkamp, G. Assmann, 2000, Atherosclerosis.

Multiyear search for a diffuse flux of muon neutrinos with AMANDA-II (vol 76, artn 042008, 2007)

Dirk Ryckbosch, K. Helbing, S. Hundertmark, 2007 .

Genetically determined absence of HDL-cholesterol and coronary atherosclerosis

G. Assmann, H. Wiebusch, H. Funke, 1995, The Lancet.

Molecular genetics approach to lipoprotein metabolism disorders

G. Assmann, H. Wiebusch, H. Funke, 1995 .

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C‐terminal domain of lipoprotein lipase causes familial chylomicronemia

A. von Eckardstein, G. Assmann, H. Wiebusch, 1996, Human mutation.

Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease.

H. Wiebusch, K. Schappert, J. Poirier, 1999, Human genetics.

Electrophoretic screening for human apolipoprotein C-II variants: repeated identification of apolipoprotein C-II(K19T)

G. Assmann, H. Wiebusch, J. Nofer, 1995, Journal of Molecular Medicine.

Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.

M. Hayden, J. Kastelein, G. Assmann, 1996, The Netherlands journal of medicine.

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

G. Assmann, H. Wiebusch, H. Funke, 1997, Neurology.

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

E. Ringelstein, C. van Broeckhoven, G. Assmann, 1998, Neurology.

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

C. Broeckhoven, G. Assmann, H. Wiebusch, 1998, Neuroscience Letters.

Molecular analysis at the Harvey Ras-1 gene in patients with long QT syndrome

G. Breithardt, W. Haverkamp, M. Borggrefe, 1995, Journal of Molecular Medicine.

ECG repolarization patterns in chromosome 7-linked QT syndrome (LQTS 2)

G. Breithardt, W. Haverkamp, E. Schulze-Bahr, 1996, Circulation.

Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity

H. Wiebusch, D. Matern, M. Brandis, 1996, European Journal of Pediatrics.

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

G. Assmann, H. Wiebusch, U. Seedorf, 1995, Human Genetics.

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.

A. von Eckardstein, M. Hayden, H. Wiebusch, 1993, The Journal of clinical investigation.

Mutational analysis of two frequently observed lipoprotein lipase gene variants in the Japanese population

G. Assmann, H. Wiebusch, K. Arakawa, 1997, Journal of Inherited Metabolic Disease.

Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency

G. Assmann, H. Wiebusch, H. Funke, 1997, European Journal of Pediatrics.

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia

G. Assmann, H. Wiebusch, R. Santer, 1996, Human mutation.

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.

G. Assmann, H. Wiebusch, U. Seedorf, 1995, Arteriosclerosis, thrombosis, and vascular biology.

Prevalence of cholesteryl ester storage disease.

G. Assmann, H. Schulte, K. Berger, 2007, Arteriosclerosis, thrombosis, and vascular biology.

Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.

G. Assmann, H. Schulte, H. Wiebusch, 2013, Nutrition, metabolism, and cardiovascular diseases : NMCD.

A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).

G. Assmann, H. Wiebusch, U. Seedorf, 2008, Clinical genetics.

Fatal genetic defect causing Wolman disease

G. Assmann, H. Wiebusch, U. Seedorf, 1999, Journal of Inherited Metabolic Disease.

Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.

B. Paulweber, H. Wiebusch, J. Patsch, 2000, Journal of lipid research.

Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers : potential interaction with the polymorphic marker D 1 S 104 on chromosome 1 q 21 – q 23

B. Paulweber, H. Wiebusch, J. Patsch, 2000 .

Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.

M. Sippl, B. Paulweber, G. Assmann, 1991, Atherosclerosis.

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

G. Assmann, H. Wiebusch, J. Kastelein, 1995, The Journal of clinical investigation.

Complete deficiency of plasma lecithin‐cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly‐30‐Ser) in the LCAT gene

G. Watts, G. Assmann, P. Cullen, 1996, Human mutation.

Screening for naturally occurring apolipoprotein A-I variants: apo A-I(ΔK107) is associated with low HDL-cholesterol levels in men but not in women

G. Assmann, H. Schulte, H. Wiebusch, 1995, Human Genetics.

The replacement of arginine by cysteine at residue 151 in apolipoprotein A-I produces a phenotype similar to that of apolipoprotein A-IMilano.

A. von Eckardstein, G. Assmann, H. Wiebusch, 1997, Atherosclerosis.

Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease.

G. Assmann, H. Wiebusch, H. Funke, 1996, Circulation.

Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene.

M. Taskinen, G. Assmann, H. Wiebusch, 1997, Atherosclerosis.

Roles for lipoprotein lipase in Alzheimer's disease: An association study

H. Wiebusch, C. Pang, L. Baum, 2000, Microscopy research and technique.

Further evidence for a synergistic association between APOEɛ4 and BCHE-K in confirmed Alzheimer’s disease

H. Wiebusch, K. Schappert, J. Poirier, 1999, Human Genetics.

Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

G. Assmann, P. Cullen, H. Wiebusch, 1995, Human molecular genetics.

PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies

G. Assmann, H. Wiebusch, H. Funke, 1997, Neurology.

A de novo mutation in the lipoprotein lipase (LPL) gene causing LPL deficiency

M. Hayden, H. Wiebusch, J. Kastelein, 1994 .

Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.

G. Assmann, H. Schulte, H. Wiebusch, 2013, Nutrition, metabolism, and cardiovascular diseases : NMCD.

H. Wiebusch, A. Eckardstein, Gerd Assmann, 1993, The Journal of clinical investigation.

A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: Impact on serum lipoprotein concentrations

G. Assmann, H. Schulte, H. Wiebusch, 1996, Human Genetics.