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 : Hereditary spastic paraplegia - Blackstone_2018_Handb.Clin.Neurol_148_633 |
Author(s) : Blackstone C |
Ref : Handb Clin Neurol , 148 :633 , 2018 |
Abstract : |
PubMedSearch : Blackstone_2018_Handb.Clin.Neurol_148_633 |
PubMedID: 29478605 |
Title : Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia - Rinaldi_2015_JAMA.Neurol_72_561 |
Author(s) : Rinaldi C , Schmidt T , Situ AJ , Johnson JO , Lee PR , Chen KL , Bott LC , Fado R , Harmison GH , Parodi S , Grunseich C , Renvoise B , Biesecker LG , De Michele G , Santorelli FM , Filla A , Stevanin G , Durr A , Brice A , Casals N , Traynor BJ , Blackstone C , Ulmer TS , Fischbeck KH |
Ref : JAMA Neurol , 72 :561 , 2015 |
Abstract : |
PubMedSearch : Rinaldi_2015_JAMA.Neurol_72_561 |
PubMedID: 25751282 |
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 : |
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 : |
PubMedSearch : Hanna_2009_Neurogenetics_10_217 |
PubMedID: 19184135 |
Gene_locus related to this paper: human-SPG21 , mouse-SPG21 |