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Synofzik M

References (5)

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 : Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD - Pottier_2019_Acta.Neuropathol_137_879
Author(s) : Pottier C , Ren Y , Perkerson RB, 3rd , Baker M , Jenkins GD , van Blitterswijk M , DeJesus-Hernandez M , van Rooij JGJ , Murray ME , Christopher E , McDonnell SK , Fogarty Z , Batzler A , Tian S , Vicente CT , Matchett B , Karydas AM , Hsiung GR , Seelaar H , Mol MO , Finger EC , Graff C , Oijerstedt L , Neumann M , Heutink P , Synofzik M , Wilke C , Prudlo J , Rizzu P , Simon-Sanchez J , Edbauer D , Roeber S , Diehl-Schmid J , Evers BM , King A , Mesulam MM , Weintraub S , Geula C , Bieniek KF , Petrucelli L , Ahern GL , Reiman EM , Woodruff BK , Caselli RJ , Huey ED , Farlow MR , Grafman J , Mead S , Grinberg LT , Spina S , Grossman M , Irwin DJ , Lee EB , Suh E , Snowden J , Mann D , Ertekin-Taner N , Uitti RJ , Wszolek ZK , Josephs KA , Parisi JE , Knopman DS , Petersen RC , Hodges JR , Piguet O , Geier EG , Yokoyama JS , Rissman RA , Rogaeva E , Keith J , Zinman L , Tartaglia MC , Cairns NJ , Cruchaga C , Ghetti B , Kofler J , Lopez OL , Beach TG , Arzberger T , Herms J , Honig LS , Vonsattel JP , Halliday GM , Kwok JB , White CL, 3rd , Gearing M , Glass J , Rollinson S , Pickering-Brown S , Rohrer JD , Trojanowski JQ , Van Deerlin V , Bigio EH , Troakes C , Al-Sarraj S , Asmann Y , Miller BL , Graff-Radford NR , Boeve BF , Seeley WW , Mackenzie IRA , van Swieten JC , Dickson DW , Biernacka JM , Rademakers R
Ref : Acta Neuropathologica , 137 :879 , 2019
Abstract :
PubMedSearch : Pottier_2019_Acta.Neuropathol_137_879
PubMedID: 30739198

Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39
Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M
Ref : Journal of Medical Genetics , 55 :39 , 2018
Abstract :
PubMedSearch : Roeben_2018_J.Med.Genet_55_39
PubMedID: 28916646
Gene_locus related to this paper: human-SERAC1

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1