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Colombo R

References (6)

Title : Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations - Youssefian_2019_J.Hepatol_71_366
Author(s) : Youssefian L , Vahidnezhad H , Saeidian AH , Pajouhanfar S , Sotoudeh S , Mansouri P , Amirkashani D , Zeinali S , Levine MA , Peris K , Colombo R , Uitto J
Ref : Journal of Hepatology , 71 :366 , 2019
Abstract :
PubMedSearch : Youssefian_2019_J.Hepatol_71_366
PubMedID: 30954460
Gene_locus related to this paper: human-ABHD5

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : Disease-Modifying Anti-Alzheimer's Drugs: Inhibitors of Human Cholinesterases Interfering with beta-Amyloid Aggregation - Brogi_2014_CNS.Neurosci.Ther_20_624
Author(s) : Brogi S , Butini S , Maramai S , Colombo R , Verga L , Lanni C , De Lorenzi E , Lamponi S , Andreassi M , Bartolini M , Andrisano V , Novellino E , Campiani G , Brindisi M , Gemma S
Ref : CNS Neurosci Ther , 20 :624 , 2014
Abstract :
PubMedSearch : Brogi_2014_CNS.Neurosci.Ther_20_624
PubMedID: 24935788

Title : Multifunctional cholinesterase and amyloid Beta fibrillization modulators. Synthesis and biological investigation - Butini_2013_ACS.Med.Chem.Lett_4_1178
Author(s) : Butini S , Brindisi M , Brogi S , Maramai S , Guarino E , Panico A , Saxena A , Chauhan V , Colombo R , Verga L , De Lorenzi E , Bartolini M , Andrisano V , Novellino E , Campiani G , Gemma S
Ref : ACS Med Chem Lett , 4 :1178 , 2013
Abstract :
PubMedSearch : Butini_2013_ACS.Med.Chem.Lett_4_1178
PubMedID: 24900626

Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33
Author(s) : Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D
Ref : Orphanet J Rare Dis , 5 :33 , 2010
Abstract :
PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33
PubMedID: 21122093
Gene_locus related to this paper: human-ABHD5

Title : Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation - Ronchetti_2008_J.Hepatol_49_474
Author(s) : Ronchetti A , Prati D , Pezzotta MG , Tavian D , Colombo R , Callea F , Colli A
Ref : Journal of Hepatology , 49 :474 , 2008
Abstract :
PubMedSearch : Ronchetti_2008_J.Hepatol_49_474
PubMedID: 18644654
Gene_locus related to this paper: human-ABHD5