Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

1995 • 2,767 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

[19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1983 • 1,639 citations

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

1991 • 225 citations

Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

1988 • 183 citations

Biochemical studies in niemann-pick disease I. Major sphingolipids of liver and spleen

1983 • 171 citations

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

1988 • 164 citations

A Microsatellite Genetic Linkage Map of Human Chromosome 18

1993 • 153 citations

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

1994 • 121 citations

Linkage of Niemann-Pick disease type C to human chromosome 18.

1993 • 120 citations

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

1994 • 114 citations

Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking.

1990 • 109 citations

Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low density lipoprotein-derived cholesterol.

1992 • 97 citations

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

1991 • 97 citations

Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease

1990 • 93 citations

Biochemical studies in Niemann‐Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

1985 • 59 citations

Chromosomal assignment of 46 brain cDNAs

1992 • 55 citations

Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

1989 • 54 citations

Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol

1991 • 37 citations

A second complementation class of cholesterol transport mutants with a variant Niemann-Pick type C phenotype

1994 • 29 citations

[A fatal respiratory form of type C Niemann-Pick disease].

1990 • 25 citations

A method for enrichment of hybrid somatic cells: Complementation studies in certain lysosomal enzymopathies

1984 • 12 citations

Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann–Pick type C and type D fibroblasts

1993 • 12 citations

Cholesterol esterification and Niemann–Pick disease: An approach to identifying the defect in fibroblasts

1990 • 10 citations

[Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis].

1986 • 2 citations