| Title : Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders - Liu_2024_Brain__ |
| Author(s) : Liu J , He Y , Lwin C , Han M , Guan B , Naik A , Bender C , Moore N , Huryn LA , Sergeev YV , Qian H , Zeng Y , Dong L , Liu P , Lei J , Haugen CJ , Prasov L , Shi R , Dollfus H , Aristodemou P , Laich Y , Nemeth AH , Taylor J , Downes S , Krawczynski MR , Meunier I , Strassberg M , Tenney J , Gao J , Shear MA , Moore AT , Duncan JL , Menendez B , Hull S , Vincent AL , Siskind CE , Traboulsi EI , Blackstone C , Sisk RA , Miraldi Utz V , Webster AR , Michaelides M , Arno G , Synofzik M , Hufnagel RB |
| Ref : Brain , : , 2024 |
| Abstract : |
| PubMedSearch : Liu_2024_Brain__ |
| PubMedID: 38735647 |
| Title : Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders - Liu_2023_bioRxiv__ |
| Author(s) : Liu J , He Y , Lwin C , Han M , Guan B , Naik A , Bender C , Moore N , Huryn LA , Sergeev Y , Qian H , Zeng Y , Dong L , Liu P , Lei J , Haugen CJ , Prasov L , Shi R , Dollfus H , Aristodemou P , Laich Y , Nemeth AH , Taylor J , Downes S , Krawczynski M , Meunier I , Strassberg M , Tenney J , Gao J , Shear MA , Moore AT , Duncan JL , Menendez B , Hull S , Vincent A , Siskind CE , Traboulsi EI , Blackstone C , Sisk R , Utz V , Webster AR , Michaelides M , Arno G , Synofzik M , Hufnagel RB |
| Ref : Biorxiv , : , 2023 |
| Abstract : |
| PubMedSearch : Liu_2023_bioRxiv__ |
| PubMedID: 37333224 |
| 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 |