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| Title : Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia - Di Rocco_2021_Hum.Mol.Genet__ |
| Author(s) : Di Rocco M , Galosi S , Lanza E , Tosato F , Caprini D , Folli V , Friedman J , Bocchinfuso G , Martire A , Di Schiavi E , Leuzzi V , Martinelli S |
| Ref : Hum Mol Genet , : , 2021 |
| Abstract : Di Rocco_2021_Hum.Mol.Genet__ |
| ESTHER : Di Rocco_2021_Hum.Mol.Genet__ |
| PubMedSearch : Di Rocco_2021_Hum.Mol.Genet__ |
| PubMedID: 34622282 |
| Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124 |
| Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 265 :124 , 2017 |
| Abstract : Pisciotta_2017_Atherosclerosis_265_124 |
| ESTHER : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedID: 28881270 |
| Gene_locus related to this paper: human-LIPA |
| Title : A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency - Burton_2015_N.Engl.J.Med_373_1010 |
| Author(s) : Burton BK , Balwani M , Feillet F , Baric I , Burrow TA , Camarena Grande C , Coker M , Consuelo-Sanchez A , Deegan P , Di Rocco M , Enns GM , Erbe R , Ezgu F , Ficicioglu C , Furuya KN , Kane J , Laukaitis C , Mengel E , Neilan EG , Nightingale S , Peters H , Scarpa M , Schwab KO , Smolka V , Valayannopoulos V , Wood M , Goodman Z , Yang Y , Eckert S , Rojas-Caro S , Quinn AG |
| Ref : N Engl J Med , 373 :1010 , 2015 |
| Abstract : Burton_2015_N.Engl.J.Med_373_1010 |
| ESTHER : Burton_2015_N.Engl.J.Med_373_1010 |
| PubMedSearch : Burton_2015_N.Engl.J.Med_373_1010 |
| PubMedID: 26352813 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical Features of Lysosomal Acid Lipase Deficiency - Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| Author(s) : Burton BK , Deegan PB , Enns GM , Guardamagna O , Horslen S , Hovingh GK , Lobritto SJ , Malinova V , McLin VA , Raiman J , Di Rocco M , Santra S , Sharma R , Sykut-Cegielska J , Whitley CB , Eckert S , Valayannopoulos V , Quinn AG |
| Ref : J Pediatr Gastroenterol Nutr , 61 :619 , 2015 |
| Abstract : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| ESTHER : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| PubMedSearch : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| PubMedID: 26252914 |
| Title : Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene - Pisciotta_2009_Mol.Genet.Metab_97_143 |
| Author(s) : Pisciotta L , Fresa R , Bellocchio A , Pino E , Guido V , Cantafora A , Di Rocco M , Calandra S , Bertolini S |
| Ref : Mol Genet Metab , 97 :143 , 2009 |
| Abstract : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| ESTHER : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedID: 19307143 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C |
| Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008 |
| Abstract : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| ESTHER : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedSearch : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedID: 18339307 |
| Gene_locus related to this paper: human-ABHD5 |