未登录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 .png)
分享.png)
收藏Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsyWang, 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 分享 收藏 Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's diseaseTrinh, Joanne; Hicks, Andrew A.; Koenig, Inke R.; Delcambre, Sylvie; Lueth, Theresa; Schaake, Susen; Wasner, Kobi; Ghelfi, Jenny; Borsche, Max; Vilarino-Gueell, Carles; Hentati, Faycel; Germer, Elisabeth L.; Bauer, Peter; Takanashi, Masashi; Kostic, Vladimir; Lang, Anthony E.; Brueggemann, Norbert; Pramstaller, Peter P.; Pichler, Irene; Rajput, Alex; Hattori, Nobutaka; Farrer, Matthew J.; Lohmann, Katja; Weissensteiner, Hansi; May, Patrick; Klein, Christine; Gruenewald, Anne 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 Long-Duration Progressive Supranuclear Palsy: Clinical Course and Pathological UnderpinningsLukic, Milica Jecmenica; Respondek, Gesine; Kurz, Carolin; Compta, Yaroslau; Gelpi, Ellen; Ferguson, Leslie W.; Rajput, Alex; Troakes, Claire; van Swieten, John C.; Giese, Armin; Roeber, Sigrun; Herms, Jochen; Arzberger, Thomas; Hoeglinger, Guenter 分享 收藏 Exome-wide rare variant analysis in familial essential tremor家族性特发性震颤的外显子组范围罕见变异分析Diez-Fairen, Monica; Houle, Gabrielle; Ortega-Cubero, Sara; Bandres-Ciga, Sara; Alvarez, Ignacio; Carcel, Maria; Ibanez, Laura; Fernandez, Maria Victoria; Budde, John P.; Trotta, Jean-Remi; Tonda, Raul; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Aguilar, Miquel; Tartari, Juan P.; Gironell, Alexandre; Garcia-Martin, Elena; Agundez, Jose A. G.; Alonso-Navarro, Hortensia; Javier Jimenez-Jimenez, Felix; Fernandez, Manel; Valldeoriola, Francesc; Jose Marti, Maria; Tolosa, Eduard; Coria, Francisco; Pastor, Maria A.; Vilarino-Guell, Carles; Rajput, Alex; Dion, Patrick A.; Cruchaga, Carlos; Rouleau, Guy A.; Pastor, Pau 分享 收藏 Assessing the NOTCH2NLC GGC expansion in European patients with essential tremorLiao, Calwing; Akcimen, Fulya; Diez-Fairen, Monica; Houle, Gabrielle; Ross, Jay P.; Schmilovich, Zoe; Spiegelman, Dan; Vuokila, Veikko; Catoire, Helene; Meijer, Inge A.; Pastor, Pau; Rajput, Alex; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏 Clinical Conditions Suggestive of Progressive Supranuclear Palsy-Diagnostic Performance提示进行性核上性麻痹的临床状况-诊断性能Grimm, Max-Joseph; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Ferguson, Leslie; Gelpi, Ellen; Giese, Armin; Grossman, Murray; Irwin, David J.; Pantelyat, Alexander; Rajput, Alex; Roeber, Sigrun; van Swieten, John C.; Troakes, Claire; Meissner, Wassilios G.; Nilsson, Christer; Piot, Ines; Compta, Yaroslau; Rowe, James B.; Hoeglinger, Guenter U. 分享 收藏 Multiomics Analyses Identify Genes and Pathways Relevant to Essential TremorLiao, Calwing; Sarayloo, Faezeh; Rochefort, Daniel; Houle, Gabrielle; Akcimen, Fulya; He, Qin; Laporte, Alexandre D.; Spiegelman, Dan; Poewe, Werner; Berg, Daniela; Mueller, Stefanie; Hopfner, Franziska; Deuschl, Guenther; Kuhlenbaeeumer, Gregor; Rajput, Alex; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏 分享 收藏 Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathiesRespondek, Gesine; Grimm, Max-Joseph; Piot, Ines; Arzberger, Thomas; Compta, Yaroslau; Englund, Elisabet; Ferguson, Leslie W.; Gelpi, Ellen; Roeber, Sigrun; Giese, Armin; Grossman, Murray; Irwin, David J.; Meissner, Wassilios G.; Nilsson, Christer; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C.; Troakes, Claire; Hoeglinger, Guenter U.; Aiba, Ikuko; Antonini, Angelo; Barone, Paolo; Bhatia, Kailash P.; Boxer, Adam K.; Colosimo, Carlo; Corvol, Jean Christophe; Dickson, Dennis W.; Golbe, Lawrence, I; Hopfner, Franziska; Josephs, Keith A.; Kassubek, Jan; Kovacs, Gabor G.; Lang, Anthony E.; Levin, Johannes; Litvan, Irene; Hollerhage, Matthias; McFarland, Nikolaus; Morris, Huw R.; Mueller, Ulrich; Oertel, Wolfgang H.; Rowe, James B.; Sakakibara, Ruji; Schellenberg, Gerard; Stamelou, Maria; van Eimeren, Thilo; Wenning, Gregor K.; Whitwell, Jennifer L. 分享 收藏 分享 收藏 How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsyGrimm, Max-Joseph; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Ferguson, Leslie; Gelpi, Ellen; Giese, Armin; Grossman, Murray; Irwin, David J.; Pantelyat, Alexander; Rajput, Alex; Roeber, Sigrun; van Swieten, John C.; Troakes, Claire; Antonini, Angelo; Bhatia, Kailash P.; Colosimo, Carlo; van Eimeren, Thilo; Kassubek, Jan; Levin, Johannes; Meissner, Wassilios G.; Nilsson, Christer; Oertel, Wolfgang H.; Piot, Ines; Poewe, Werner; Wenning, Gregor K.; Boxer, Adam; Golbe, Lawrence I.; Josephs, Keith A.; Litvan, Irene; Morris, Huw R.; Whitwell, Jennifer L.; Compta, Yaroslau; Corvol, Jean-Christophe; Lang, Anthony E.; Rowe, James B.; Hoeglinger, Guenter U.; Boxer, Adam L.; Rajput, Alex; Pantelyat, Alexander; Antonini, Angelo; Lang, Anthony E.; Giese, Armin; Colosimo, Carlo; Nilsson, Christer; Troakes, Claire; Irwin, David J.; Dickson, Dennis W.; Gelpi, Ellen; Respondek, Gesine; Wenning, Gregor K.; Hoeglinger, Guenter U.; Morris, Huw R.; Aiba, Ikuko; Litvan, Irene; Rowe, James B.; Kassubek, Jan; Corvol, Jean-Christophe; Whitwell, Jennifer L.; Levin, Johannes; van Swieten, John; Bhatia, Kailash P.; Josephs, Keith A.; Golbe, Lawrence I.; Stamelou, Maria; Grossman, Murray; van Eimeren, Thilo; Arzberger, Thomas; Mueller, Ulrich; Meissner, Wassilios G.; Poewe, Werner; Oertel, Wolfgang H.; Compta, Yaroslau 分享 收藏 DNAJC12 and dopa-responsive nonprogressive parkinsonismStraniero, Letizia; Guella, Ilaria; Cilia, Roberto; Parkkinen, Laura; Rimoldi, Valeria; Young, Alexander; Asselta, Rosanna; Solda, Giulia; Sossi, Vesna; Stoessl, A. Jon; Priori, Alberto; Nishioka, Kenya; Hattori, Nobutaka; Follett, Jordan; Rajput, Alex; Blau, Nenad; Pezzoli, Gianni; Farrer, Matthew J.; Goldwurm, Stefano; Rajput, Ali H.; Duga, Stefano 分享 收藏 No rare deleterious variants from &ITSTK32B&IT, &ITPPARGC1A&IT, and &ITCTNNA3&IT are associated with essential tremorHoule, Gabrielle; Ambalavanan, Amirthagowri; Schmouth, Jean-Francois; Leblond, Claire S.; Spiegelman, Dan; Laurent, Sandra B.; Bourassa, Cynthia V.; Grayson, Celene; Panisset, Michel; Chouinard, Sylvain; Dupre, Nicolas; Vilarino-Guell, Carles; Rajput, Alex; Girard, Simon L.; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏 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 Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian populationHoule, Gabrielle; Schmouth, Jean-Francois; Leblond, Claire S.; Ambalavanan, Amirthagowri; Spiegelman, Dan; Laurent, Sandra B.; Bourassa, Cynthia V.; Panisset, Michel; Chouinard, Sylvain; Dupre, Nicolas; Vilarino-Guell, Carles; Rajput, Alex; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
