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| 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 : Liu_2023_bioRxiv__ |
| ESTHER : Liu_2023_bioRxiv__ |
| PubMedSearch : Liu_2023_bioRxiv__ |
| PubMedID: 37333224 |
| Title : Hereditary spastic paraplegia - Blackstone_2018_Handb.Clin.Neurol_148_633 |
| Author(s) : Blackstone C |
| Ref : Handb Clin Neurol , 148 :633 , 2018 |
| Abstract : Blackstone_2018_Handb.Clin.Neurol_148_633 |
| ESTHER : Blackstone_2018_Handb.Clin.Neurol_148_633 |
| PubMedSearch : Blackstone_2018_Handb.Clin.Neurol_148_633 |
| PubMedID: 29478605 |
| Title : Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons - Soderblom_2010_Neurogenetics_11_369 |
| Author(s) : Soderblom C , Stadler J , Jupille H , Blackstone C , Shupliakov O , Hanna MC |
| Ref : Neurogenetics , 11 :369 , 2010 |
| Abstract : Soderblom_2010_Neurogenetics_11_369 |
| ESTHER : Soderblom_2010_Neurogenetics_11_369 |
| PubMedSearch : Soderblom_2010_Neurogenetics_11_369 |
| PubMedID: 20661613 |
| Gene_locus related to this paper: human-SPG21 , mouse-SPG21 |
| Title : Interaction of the SPG21 protein ACP33\/maspardin with the aldehyde dehydrogenase ALDH16A1 - Hanna_2009_Neurogenetics_10_217 |
| Author(s) : Hanna MC , Blackstone C |
| Ref : Neurogenetics , 10 :217 , 2009 |
| Abstract : Hanna_2009_Neurogenetics_10_217 |
| ESTHER : Hanna_2009_Neurogenetics_10_217 |
| PubMedSearch : Hanna_2009_Neurogenetics_10_217 |
| PubMedID: 19184135 |
| Gene_locus related to this paper: human-SPG21 , mouse-SPG21 |