Agnès Sassolas

Author PubWeight™ 17.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. J Clin Invest 2005 1.37
2 GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. J Clin Endocrinol Metab 2011 1.02
3 Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. Mol Genet Metab 2007 0.99
4 Immune response to Abeta-peptides in peripheral blood from patients with Alzheimer's disease and control subjects. Neurosci Lett 2004 0.95
5 Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients. Clin Chim Acta 2008 0.94
6 Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. J Lipid Res 2012 0.87
7 A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). Hum Mutat 2011 0.85
8 Alteration in lipoprotein lipase activity bound to triglyceride-rich lipoproteins in the postprandial state in type 2 diabetes. J Lipid Res 2004 0.85
9 Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis 2010 0.84
10 A controlled study of consumption of beta-glucan-enriched soups for 2 months by type 2 diabetic free-living subjects. Br J Nutr 2009 0.84
11 Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia. J Clin Endocrinol Metab 2005 0.83
12 Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. Eur J Pediatr 2008 0.83
13 Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B. Eur J Gastroenterol Hepatol 2009 0.83
14 Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. J Neurol 2011 0.82
15 Chylomicron retention disease: a long term study of two cohorts. Mol Genet Metab 2009 0.80
16 Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. FASEB J 2013 0.80
17 Prevalence and function of anti-lipoprotein lipase auto-antibodies in type V hyperchylomicronemia. Atherosclerosis 2009 0.79
18 Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects. PLoS One 2014 0.77
19 Relation between XbA1 apolipoprotein B gene polymorphism and cardiovascular risk in a type 2 diabetic cohort. Atherosclerosis 2004 0.76
20 Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. Diagn Pathol 2013 0.75
21 Chylomicron retention disease: report of two cases from a Greek Island. J Pediatr Endocrinol Metab 2012 0.75