| 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 : Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes - Hufnagel_2015_J.Med.Genet_52_85 |
| Author(s) : Hufnagel RB , Arno G , Hein ND , Hersheson J , Prasad M , Anderson Y , Krueger LA , Gregory LC , Stoetzel C , Jaworek TJ , Hull S , Li A , Plagnol V , Willen CM , Morgan TM , Prows CA , Hegde RS , Riazuddin S , Grabowski GA , Richardson RJ , Dieterich K , Huang T , Revesz T , Martinez-Barbera JP , Sisk RA , Jefferies C , Houlden H , Dattani MT , Fink JK , Dollfus H , Moore AT , Ahmed ZM |
| Ref : Journal of Medical Genetics , 52 :85 , 2015 |
| Abstract : |
| PubMedSearch : Hufnagel_2015_J.Med.Genet_52_85 |
| PubMedID: 25480986 |