Huntington disease like 2 in Southern Italy: screening of JPH3 and other genes involved in huntington like phenotypes

Autor: A Patitucci, M Muglia, RM Mancina, P Tarantino, F Annesi, I Manna, A Magariello, A Gabriele, FL Conforti, R Mazzei, C Ungaro, L Citrigno, W Sproviero, A Gambardella, A Quattrone.

Publikováno v: XLI Congresso della Società Italiana di Neurologia, Catania, 2010
info:cnr-pdr/source/autori:A Patitucci, M Muglia, RM Mancina, P Tarantino, F Annesi, I Manna, A Magariello, A Gabriele, FL Conforti, R Mazzei, C Ungaro, L Citrigno, W Sproviero, A Gambardella, A Quattrone./congresso_nome:XLI Congresso della Società Italiana di Neurologia/congresso_luogo:Catania/congresso_data:2010/anno:2010/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::9738c0d0366225ec738169ec7224f294
https://publications.cnr.it/doc/124983

The rs2294918 E434K variant modulates PNPLA3 expression and liver damage

Autor: Donati B, Bm, Motta, Pingitore P, Meroni M, Pietrelli A, Alisi A, Petta S, Xing C, Dongiovanni P, Del Menico B, Rametta R, Rm, Mancina, Badiali S, Al, Fracanzani, Craxì A, Fargion S, Nobili V, Romeo S, Luca Valenti

Publikováno v: Europe PubMed Central

The PNPLA3 rs738409 polymorphism (I148M) is a major determinant of hepatic fat and predisposes to the full spectrum of liver damage in nonalcoholic fatty liver disease (NAFLD). Aim of this study was to evaluate whether additional PNPLA3 coding varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2dc7fb55a130be1de8ba08678adee1ee
http://europepmc.org/abstract/med/26605757