Robert Rousson

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

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Philippe Latour, Christel Thauvin‐Robinet, Chantal Baudelet-Méry et al. · The American Journal of Human Genetics · 2010 · 225 citations · Full text

Biology, Natural Sciences, Genetics +6

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

Marie T. Vanier, David A. Wenger, Marcella Comly et al. · Clinical Genetics · 1988 · 183 citations

Pathology, Low Esterification Rates, Hyperlipidemia +18

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

Gilles Millat, Patrice Bouvagnet, Philippe Chevalier et al. · European Journal of Medical Genetics · 2010 · 160 citations

Cardiomyopathy, Unrelated Patients, Cardiovascular Disease +9

Usefulness of procalcitonin for diagnosis of infection in cardiac surgical patients

A. Aouifi, Vincent Piriou, Olivier Bastien et al. · Critical Care Medicine · 2000 · 156 citations