未登录 分享 收藏
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy (vol 19, 61, 2024) Wang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yebenes, Justo G.; Rabano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Mueller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivanna M.; Lee, Edward B.; White III, Charles L.; Morris, Huw; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W.; Hoeglinger, Guenter U.; Schellenberg, Gerard D.; Geschwind, Daniel H.; Lee, Wan-Ping 分享 收藏
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes 进行性核上性麻痹的遗传，转录组，组织学和生化分析涉及神经胶质激活和新的风险基因 Farrell, Kurt; Humphrey, Jack; Chang, Timothy; Zhao, Yi; Leung, Yuk Yee; Kuksa, Pavel P.; Patil, Vishakha; Lee, Wan-Ping; Kuzma, Amanda B.; Valladares, Otto; Cantwell, Laura B.; Wang, Hui; Ravi, Ashvin; De Sanctis, Claudia; Han, Natalia; Christie, Thomas D.; Afzal, Robina; Kandoi, Shrishtee; Whitney, Kristen; Krassner, Margaret M.; Ressler, Hadley; Kim, SoongHo; Dangoor, Diana; Iida, Megan A.; Casella, Alicia; Walker, Ruth H.; Nirenberg, Melissa J.; Renton, Alan E.; Babrowicz, Bergan; Coppola, Giovanni; Raj, Towfique; Hoeglinger, Guenter U.; Mueller, Ulrich; Golbe, Lawrence I.; Morris, Huw R.; Hardy, John; Revesz, Tamas; Warner, Tom T.; Jaunmuktane, Zane; Mok, Kin Y.; Rademakers, Rosa; Dickson, Dennis W.; Ross, Owen A.; Wang, Li-San; Goate, Alison; Schellenberg, Gerard; Geschwind, Daniel H.; Crary, John F.; Naj, Adam 分享 收藏
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy Wang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yebenes, Justo G.; Rabano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Mueller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivanna M.; Lee, Edward B.; White III, Charles L.; Morris, Huw; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W.; Hoeglinger, Guenter U.; Schellenberg, Gerard D.; Geschwind, Daniel H.; Lee, Wan-Ping 分享 收藏
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy 尸检证实的多系统萎缩中ZIC1和ZIC4附近的常见变异 Hopfner, Franziska; Tietz, Anja K.; Ruf, Viktoria C.; Ross, Owen A.; Koga, Shunsuke; Dickson, Dennis; Aguzzi, Adriano; Attems, Johannes; Beach, Thomas; Beller, Allison; Cheshire, William P.; van Deerlin, Vivianna; Desplats, Paula; Deuschl, Guenther; Duyckaerts, Charles; Ellinghaus, David; Evsyukov, Valentin; Flanagan, Margaret Ellen; Franke, Andre; Frosch, Matthew P.; Gearing, Marla; Gelpi, Ellen; van Gerpen, Jay A.; Ghetti, Bernardino; Glass, Jonathan D.; Grinberg, Lea T.; Halliday, Glenda; Helbig, Ingo; Hollerhage, Matthias; Huitinga, Inge; Irwin, David John; Keene, Dirk C.; Kovacs, Gabor G.; Lee, Edward B.; Levin, Johannes; Marti, Maria J.; Mackenzie, Ian; McKeith, Ian; Mclean, Catriona; Mollenhauer, Brit; Neumann, Manuela; Newell, Kathy L.; Pantelyat, Alex; Pendziwiat, Manuela; Peters, Annette; Porcel, Laura Molina; Rabano, Alberto; Matej, Radoslav; Rajput, Alex; Rajput, Ali; Reimann, Regina; Scott, William K.; Seeley, William; Selvackadunco, Sashika; Simuni, Tanya; Stadelmann, Christine; Svenningsson, Per; Thomas, Alan; Trenkwalder, Claudia; Troakes, Claire; Trojanowski, John Q.; Uitti, Ryan J.; White, Charles L.; Wszolek, Zbigniew K.; Xie, Tao; Ximelis, Teresa; Yebenes, Justo; Mueller, Ulrich; Schellenberg, Gerard D.; Herms, Jochen; Kuhlenbaumer, Gregor; Hoeglinger, Gunter 分享 收藏
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism 确定X连锁肌张力障碍-帕金森综合征中与年龄相关的外显率的遗传修饰符 Laabs, Bjorn-Hergen; Klein, Christine; Pozojevic, Jelena; Domingo, Aloysius; Bruggemann, Norbert; Grutz, Karen; Rosales, Raymond L.; Jamora, Roland Dominic; Saranza, Gerard; Diesta, Cid Czarina E.; Wittig, Michael; Schaake, Susen; Dulovic-Mahlow, Marija; Quismundo, Jana; Otto, Pia; Acuna, Patrick; Go, Criscely; Sharma, Nutan; Multhaupt-Buell, Trisha; Muller, Ulrich; Hanssen, Henrike; Kilpert, Fabian; Franke, Andre; Rolfs, Arndt; Bauer, Peter; Dobricic, Valerija; Lohmann, Katja; Ozelius, Laurie J.; Kaiser, Frank J.; Konig, Inke R.; Westenberger, Ana 分享 收藏
Four-repeat tauopathies Roesler, Thomas W.; Marvian, Amir Tayaranian; Brendel, Matthias; Nykaenen, Niko-Petteri; Hoellerhage, Matthias; Schwarz, Sigrid C.; Hopfner, Franziska; Koeglsperger, Thomas; Respondek, Gesine; Schweyer, Kerstin; Levin, Johannes; Villemagne, Victor L.; Barthel, Henryk; Sabri, Osama; Mueller, Ulrich; Meissner, Wassilios G.; Kovacs, Gabor G.; Hoeglinger, Gunter U. 分享 收藏
分享 收藏
K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt Roesler, Thomas W.; Salama, Mohamed; Shalash, Ali S.; Khedr, Eman M.; El-Tantawy, Abdelhalim; Fawi, Gharib; El-Motayam, Amal; El-Seidy, Ehab; El-Sherif, Mohamed; El-Gamal, Mohamed; Moharram, Mohamed; El-Kattan, Mohammad; Abdel-Naby, Muhammad; Ashour, Samia; Mueller, Ulrich; Dempfle, Astrid; Kuhlenbaeumer, Gregor; Hoeglinger, Guenter U. 分享 收藏
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype TRIM11基因座的变异改变了进行性核上性麻痹的表型 Jabbari, Edwin; Woodside, John; Tan, Manuela M. X.; Shoai, Maryam; Pittman, Alan; Ferrari, Raffaele; Mok, Kin Y.; Zhang, David; Reynolds, Regina H.; de Silva, Rohan; Grimm, Max-Joseph; Respondek, Gesine; Mueller, Ulrich; Al-Sarraj, Safa; Gentleman, Stephen M.; Lees, Andrew J.; Warner, Thomas T.; Hardy, John; Revesz, Tamas; Hoeglinger, Guenter U.; Holton, Janice L.; Ryten, Mina; Morris, Huw R. 分享 收藏
Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1 Weber, Axel; Schwarz, Sigrid C.; Tost, Jorg; Truembach, Dietrich; Winter, Pia; Busato, Florence; Tacik, Pawel; Windhorst, Anita C.; Fagny, Maud; Arzberger, Thomas; McLean, Catriona; van Swieten, John C.; Schwarz, Johannes; Weisenhorn, Daniela Vogt; Wurst, Wolfgang; Adhikary, Till; Dickson, Dennis W.; Hoelinger, Gunter U.; Mueller, Ulrich 分享 收藏
CXCR4 involvement in neurodegenerative diseases Bonham, Luke W.; Karch, Celeste M.; Fan, Chun C.; Tan, Chin; Geier, Ethan G.; Wang, Yunpeng; Wen, Natalie; Broce, Iris J.; Li, Yi; Barkovich, Matthew J.; Ferrari, Raffaele; Hardy, John; Momeni, Parastoo; Hoeglinger, Guenter; Mueller, Ulrich; Hess, Christopher P.; Sugrue, Leo P.; Dillon, William P.; Schellenberg, Gerard D.; Miller, Bruce L.; Andreassen, Ole A.; Dale, Anders M.; Barkovich, A. James; Yokoyama, Jennifer S.; Desikan, Rahul S. 分享 收藏
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1 X连锁肌张力障碍-帕金森病的疾病发作与TAF1中SVA逆转座子内六聚体重复序列的扩增有关 Bragg, D. Cristopher; Mangkalaphiban, Kotchaphorn; Vaine, Christine A.; Kulkarni, Nichita J.; Shin, David; Yadav, Rachita; Dhakal, Jyotsna; Ton, Mai-Linh; Cheng, Anne; Russo, Christopher T.; Ang, Mark; Acuna, Patrick; Go, Criscely; Franceour, Taylor N.; Multhaupt-Buell, Trisha; Ito, Naoto; Mueller, Ulrich; Hendriks, William T.; Breakefield, Xandra O.; Sharma, Nutan; Ozelius, Laurie J. 分享 收藏
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia Shalash, Ali S.; Roesler, Thomas W.; Mueller, Stefanie H.; Salama, Mohamed; Deuschl, Guenther; Mueller, Ulrich; Opladen, Thomas; Petersen, Britt-Sabina; Franke, Andre; Hopfner, Franziska; Kuhlenbaeumer, Gregor; Hoeglinger, Guenter U. 分享 收藏
Which Ante Mortem Clinical Features Predict Progressive Supranuclear Palsy Pathology? Respondek, Gesine; Kurz, Carolin; Arzberger, Thomas; Compta, Yaroslau; Englund, Elisabet; Ferguson, Leslie W.; Gelpi, Ellen; Giese, Armin; Irwin, David J.; Meissner, Wassilios G.; Nilsson, Christer; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C.; Troakes, Claire; Josephs, Keith A.; Lang, Anthony E.; Mollenhauer, Brit; Mueller, Ulrich; Whitwell, Jennifer L.; Antonini, Angelo; Bhatia, Kailash P.; Bordelon, Yvette; Corvol, Jean-Christophe; Colosimo, Carlo; Dodel, Richard; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw; Nestor, Peter; Oertel, Wolfgang H.; Rabinovici, Gil D.; Rowe, James B.; van Eimeren, Thilo; Wenning, Gregor K.; Boxer, Adam; Golbe, Lawrence I.; Litvan, Irene; Stamelou, Maria; Hoeglinger, Guenter U. 分享 收藏
Clinical Diagnosis of Progressive Supranuclear Palsy: The Movement Disorder Society Criteria 进行性核上性麻痹的临床诊断: 运动障碍协会标准 Hoeglinger, Guenter U.; Respondek, Gesine; Stamelou, Maria; Kurz, Carolin; Josephs, Keith A.; Lang, Anthony E.; Mollenhauer, Brit; Mueller, Ulrich; Nilsson, Christer; Whitwell, Jennifer L.; Arzberger, Thomas; Englund, Elisabet; Gelpi, Ellen; Giese, Armin; Irwin, David J.; Meissner, Wassilios G.; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C.; Troakes, Claire; Antonini, Angelo; Bhatia, Kailash P.; Bordelon, Yvette; Compta, Yaroslau; Corvol, Jean-Christophe; Colosimo, Carlo; Dickson, Dennis W.; Dodel, Richard; Ferguson, Leslie; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw R.; Nestor, Peter; Oertel, Wolfgang H.; Poewe, Werner; Rabinovici, Gil; Rowe, James B.; Schellenberg, Gerard D.; Seppi, Klaus; van Eimeren, Thilo; Wenning, Gregor K.; Boxer, Adam L.; Golbe, Lawrence I.; Litvan, Irene 分享 收藏
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia Yokoyama, Jennifer S.; Karch, Celeste M.; Fan, Chun C.; Bonham, Luke W.; Kouri, Naomi; Ross, Owen A.; Rademakers, Rosa; Kim, Jungsu; Wang, Yunpeng; Hoeglinger, Guenter U.; Mueller, Ulrich; Ferrari, Raffaele; Hardy, John; Momeni, Parastoo; Sugrue, Leo P.; Hess, Christopher P.; Barkovich, A. James; Boxer, Adam L.; Seeley, William W.; Rabinovici, Gil D.; Rosen, Howard J.; Miller, Bruce L.; Schmansky, Nicholas J.; Fischl, Bruce; Hyman, Bradley T.; Dickson, Dennis W.; Schellenberg, Gerard D.; Andreassen, Ole A.; Dale, Anders M.; Desikan, Rahul S. 分享 收藏
分享 收藏
PERK activation mitigates tau pathology in vitro and in vivo Bruch, Julius; Xu, Hong; Roesler, Thomas W.; De Andrade, Anderson; Kuhn, Peer-Hendrik; Lichtenthaler, Stefan F.; Arzberger, Thomas; Winklhofer, Konstanze F.; Mueller, Ulrich; Hoeglinger, Guenter U. 分享 收藏
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO Skopkova, Martina; Hennig, Friederike; Shin, Byung-Sik; Turner, Clesson E.; Stanikova, Daniela; Brennerova, Katarina; Stanik, Juraj; Fischer, Ute; Henden, Lyndal; Mueller, Ulrich; Steinberger, Daniela; Leshinsky-Silver, Esther; Bottani, Armand; Kurdiova, Timea; Ukropec, Jozef; Nyitrayova, Olga; Kolnikova, Miriam; Klimes, Iwar; Borck, Guntram; Bahlo, Melanie; Haas, Stefan A.; Kim, Joo-Ran; Lotspeich-Cole, Leda E.; Gasperikova, Daniela; Dever, Thomas E.; Kalscheuer, Vera M. 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
未登录.png){kind=icon}