| Title : Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia - Dijk_2022_Circulation__ |
| Author(s) : Dijk W , Di Filippo M , Kooijman S , van Eenige R , Rimbert A , Caillaud A , Thedrez A , Arnaud L , Pronk A , Garcon D , Sotin T , Lindenbaum P , Garcia EO , Pais de Barros JP , Duvillard L , Si-Tayeb K , Amigo N , Le Questel JY , Rensen PCN , Le May C , Moulin P , Cariou B |
| Ref : Circulation , : , 2022 |
| Abstract : |
| PubMedSearch : Dijk_2022_Circulation__ |
| PubMedID: 35899625 |
| Gene_locus related to this paper: human-LIPC |
| Title : Childhood\/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases - Poinsot_2017_J.Clin.Lipidol_11_167 |
| Author(s) : Poinsot P , Collardeau Frachon S , Restier L , Serusclat A , Di Filippo M , Charriere S , Moulin P , Lachaux A , Peretti N |
| Ref : J Clin Lipidol , 11 :167 , 2017 |
| Abstract : |
| PubMedSearch : Poinsot_2017_J.Clin.Lipidol_11_167 |
| PubMedID: 28391883 |
| Gene_locus related to this paper: human-LIPA |
| Title : Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter - Caussy_2016_Atherosclerosis_246_280 |
| Author(s) : Caussy C , Charriere S , Meirhaeghe A , Dallongeville J , Lefai E , Rome S , Cuerq C , Euthine V , Delay M , Marmontel O , Di Filippo M , Lagarde M , Moulin P , Marcais C |
| Ref : Atherosclerosis , 246 :280 , 2016 |
| Abstract : |
| PubMedSearch : Caussy_2016_Atherosclerosis_246_280 |
| PubMedID: 26820803 |
| Title : A convergent model for cognitive dysfunctions in Parkinson's disease: the critical dopamine-acetylcholine synaptic balance - Calabresi_2006_Lancet.Neurol_5_974 |
| Author(s) : Calabresi P , Picconi B , Parnetti L , Di Filippo M |
| Ref : Lancet Neurol , 5 :974 , 2006 |
| Abstract : |
| PubMedSearch : Calabresi_2006_Lancet.Neurol_5_974 |
| PubMedID: 17052664 |