| Title : Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome - Igelman_2021_Ophthalmic.Genet_42_664 |
| Author(s) : Igelman AD , Ku C , da Palma MM , Georgiou M , Schiff ER , Lam BL , Sankila EM , Ahn J , Pyers L , Vincent A , Ferraz Sallum JM , Zein WM , Oh JK , Maldonado RS , Ryu J , Tsang SH , Gorin MB , Webster AR , Michaelides M , Yang P , Pennesi ME |
| Ref : Ophthalmic Genet , 42 :664 , 2021 |
| Abstract : |
| PubMedSearch : Igelman_2021_Ophthalmic.Genet_42_664 |
| PubMedID: 34223797 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : In vivo Evaluation of a Newly Synthesized Acetylcholinesterase Inhibitor in a Transgenic Drosophila Model of Alzheimer's Disease - Uras_2021_Front.Neurosci_15_691222 |
| Author(s) : Uras G , Manca A , Zhang P , Markus Z , Mack N , Allen S , Bo M , Xu S , Xu J , Georgiou M , Zhu Z |
| Ref : Front Neurosci , 15 :691222 , 2021 |
| Abstract : |
| PubMedSearch : Uras_2021_Front.Neurosci_15_691222 |
| PubMedID: 34276297 |
| Title : The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective - Nguyen_2021_Genes.(Basel)_12_1404 |
| Author(s) : Nguyen XT , Almushattat H , Strubbe I , Georgiou M , Li CHZ , van Schooneveld MJ , Joniau I , De Baere E , Florijn RJ , Bergen AA , Hoyng CB , Michaelides M , Leroy BP , Boon CJF |
| Ref : Genes (Basel) , 12 :1404 , 2021 |
| Abstract : |
| PubMedSearch : Nguyen_2021_Genes.(Basel)_12_1404 |
| PubMedID: 34573385 |
| Gene_locus related to this paper: human-ABHD12 |