| Title : Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients - Noguera_2023_Biomolecules_13_ |
| Author(s) : Noguera NI , Tavian D , Angelini C , Cortese F , Filosto M , Garibaldi M , Missaglia S , Smigliani A , Zaza A , Pennisi EM |
| Ref : Biomolecules , 13 : , 2023 |
| Abstract : |
| PubMedSearch : Noguera_2023_Biomolecules_13_ |
| PubMedID: 36979387 |
| Title : Neutral lipid storage disease with myopathy: A 10-year follow-up case report - Missaglia_2022_Eur.J.Transl.Myol__ |
| Author(s) : Missaglia S , Tavian D , Angelini C |
| Ref : Eur J Transl Myol , : , 2022 |
| Abstract : |
| PubMedSearch : Missaglia_2022_Eur.J.Transl.Myol__ |
| PubMedID: 35713537 |
| Title : Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome - Tavian_2021_Eur.J.Transl.Myol__ |
| Author(s) : Tavian D , Durdu M , Angelini C , Torre E , Missaglia S |
| Ref : Eur J Transl Myol , : , 2021 |
| Abstract : |
| PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedID: 33985321 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings - Eskiocak_2019_Lipids.Health.Dis_18_232 |
| Author(s) : Eskiocak AH , Missaglia S , Moro L , Durdu M , Tavian D |
| Ref : Lipids Health Dis , 18 :232 , 2019 |
| Abstract : |
| PubMedSearch : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedID: 31883530 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function - Missaglia_2019_Cells_8_ |
| Author(s) : Missaglia S , Coleman RA , Mordente A , Tavian D |
| Ref : Cells , 8 : , 2019 |
| Abstract : |
| PubMedSearch : Missaglia_2019_Cells_8_ |
| PubMedID: 30795549 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents - Durdu_2018_BMC.Med.Genet_19_88 |
| Author(s) : Durdu M , Missaglia S , Moro L , Tavian D |
| Ref : BMC Med Genet , 19 :88 , 2018 |
| Abstract : |
| PubMedSearch : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedID: 29843625 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Neutral Lipid Storage Diseases: clinical\/genetic features and natural history in a large cohort of Italian patients - Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| Author(s) : Pennisi EM , Arca M , Bertini E , Bruno C , Cassandrini D , D'Amico A , Garibaldi M , Gragnani F , Maggi L , Massa R , Missaglia S , Morandi L , Musumeci O , Pegoraro E , Rastelli E , Santorelli FM , Tasca E , Tavian D , Toscano A , Angelini C |
| Ref : Orphanet J Rare Dis , 12 :90 , 2017 |
| Abstract : |
| PubMedSearch : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| PubMedID: 28499397 |
| Title : Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement - Missaglia_2017_Neuromuscul.Disord_27_481 |
| Author(s) : Missaglia S , Maggi L , Mora M , Gibertini S , Blasevich F , Agostoni P , Moro L , Cassandrini D , Santorelli FM , Gerevini S , Tavian D |
| Ref : Neuromuscular Disorders , 27 :481 , 2017 |
| Abstract : |
| PubMedSearch : Missaglia_2017_Neuromuscul.Disord_27_481 |
| PubMedID: 28258942 |
| Title : Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene - |
| Author(s) : Pasanisi MB , Missaglia S , Cassandrini D , Salerno F , Farina S , Andreini D , Agostoni P , Morandi L , Mora M , Tavian D |
| Ref : Int J Cardiol , 207 :165 , 2016 |
| PubMedID: 26803235 |
| Title : Chanarin Dorfman syndrome: a case report with novel nonsense mutation - Gupta_2016_Gene_575_359 |
| Author(s) : Gupta N , Gothwal S , Satpathy AK , Missaglia S , Tavian D , Das P , Timila D , Kabra M |
| Ref : Gene , 575 :359 , 2016 |
| Abstract : |
| PubMedSearch : Gupta_2016_Gene_575_359 |
| PubMedID: 26353074 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter - Missaglia_2014_BMC.Med.Genet_15_32 |
| Author(s) : Missaglia S , Valadares ER , Moro L , Faguntes ED , Quintao Roque R , Giardina B , Tavian D |
| Ref : BMC Med Genet , 15 :32 , 2014 |
| Abstract : |
| PubMedSearch : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedID: 24628803 |
| Gene_locus related to this paper: human-ABHD5 |