Marie T. Vanier

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

Marie T. Vanier, Claire Rodriguez‐Lafrasse, Robert Rousson et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1991 · 229 citations

Lipid Disorder, Phenotypic Variation, Oxysterol +8

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Gilles Millat, Karim Chikh, Saule Naureckiene et al. · The American Journal of Human Genetics · 2001 · 166 citations · Full text

Mendelian Disorder, Npc2 Group, Genetic Disorder +12

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

Claire Rodriguez-Lafrasse, Robert Rousson, Jean Jacques Bonnet et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1990 · 92 citations

Imipramine-treated Fibroblast Cultures, Lipid Disorder, Oxysterol +10

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

Toshiyuki Yamamoto, Eiji Nanba, Haruaki Ninomiya et al. · Human Genetics · 1999 · 87 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Type C Niemann-Pick disease: A murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver

Ehud Goldin, Calvin F. Roff, Stephen P. Miller et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1992 · 64 citations

Lipid Disorder, Biochemistry, Medicine +9