日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy

尸检确诊的多系统萎缩症中 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, Günther; 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; Höllerhage, Matthias; Huitinga, Inge; Irwin, David John; Keene, Dirk C; Kovacs, Gabor G; Lee, Edward B; Levin, Johannes; Martí, Maria J; Mackenzie, Ian; McKeith, Ian; Mclean, Catriona; Mollenhauer, Brit; Neumann, Manuela; Newell, Kathy L; Pantelyat, Alex; Pendziwiat, Manuela; Peters, Annette; Molina Porcel, Laura; Rabano, Alberto; Matěj, 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; Müller, Ulrich; Schellenberg, Gerard D; Herms, Jochen; Kuhlenbäumer, Gregor; Höglinger, Günter

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.

脊髓小脑性共济失调 3 型患者尿液中多聚谷氨酰胺共济蛋白-3 的水平升高

Koike Yuka, Jansen-West Karen R, Hanna Al-Shaikh Rana, Carlomagno Yari, Song Yuping, Dunmore Judith A, LeDoux Mark S, Friedman Joseph H, Pena Ashley B, Uitti Ryan J, Zaremba Jacek, van Gerpen Jay A, Pfeiffer Ronald F, Veerappan Venka, Aiba Ikuko, Hashimoto Rina, Giles Samuel S, Shah Jaimin S, Tipton Philip W, Huang Josephine F, Wierenga Klaas J, Aasly Jan, Fryer John D, Petrucelli Leonard, Wszolek Zbigniew K, Prudencio Mercedes

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

针对3型脊髓小脑性共济失调的等位基因特异性靶向治疗和药效学标志物研究

Prudencio, Mercedes; Garcia-Moreno, Hector; Jansen-West, Karen R; Al-Shaikh, Rana Hanna; Gendron, Tania F; Heckman, Michael G; Spiegel, Matthew R; Carlomagno, Yari; Daughrity, Lillian M; Song, Yuping; Dunmore, Judith A; Byron, Natalie; Oskarsson, Björn; Nicholson, Katharine A; Staff, Nathan P; Gorcenco, Sorina; Puschmann, Andreas; Lemos, João; Januário, Cristina; LeDoux, Mark S; Friedman, Joseph H; Polke, James; Labrum, Robin; Shakkottai, Vikram; McLoughlin, Hayley S; Paulson, Henry L; Konno, Takuya; Onodera, Osamu; Ikeuchi, Takeshi; Tada, Mari; Kakita, Akiyoshi; Fryer, John D; Karremo, Christin; Gomes, Inês; Caviness, John N; Pittelkow, Mark R; Aasly, Jan; Pfeiffer, Ronald F; Veerappan, Venka; Eggenberger, Eric R; Freeman, William D; Huang, Josephine F; Uitti, Ryan J; Wierenga, Klaas J; Marin Collazo, Iris V; Tipton, Philip W; van Gerpen, Jay A; van Blitterswijk, Marka; Bu, Guojun; Wszolek, Zbigniew K; Giunti, Paola; Petrucelli, Leonard

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

更正:PLCG2 中的非同义突变可降低阿尔茨海默病、路易体痴呆和额颞叶痴呆的风险,并增加长寿的可能性。

van der Lee, Sven J; Conway, Olivia J; Jansen, Iris; Carrasquillo, Minerva M; Kleineidam, Luca; van den Akker, Erik; Hernández, Isabel; van Eijk, Kristel R; Stringa, Najada; Chen, Jason A; Zettergren, Anna; Andlauer, Till F M; Diez-Fairen, Monica; Simon-Sanchez, Javier; Lleó, Alberto; Zetterberg, Henrik; Nygaard, Marianne; Blauwendraat, Cornelis; Savage, Jeanne E; Mengel-From, Jonas; Moreno-Grau, Sonia; Wagner, Michael; Fortea, Juan; Keogh, Michael J; Blennow, Kaj; Skoog, Ingmar; Friese, Manuel A; Pletnikova, Olga; Zulaica, Miren; Lage, Carmen; de Rojas, Itziar; Riedel-Heller, Steffi; Illán-Gala, Ignacio; Wei, Wei; Jeune, Bernard; Orellana, Adelina; Then Bergh, Florian; Wang, Xue; Hulsman, Marc; Beker, Nina; Tesi, Niccolo; Morris, Christopher M; Indakoetxea, Begoña; Collij, Lyduine E; Scherer, Martin; Morenas-Rodríguez, Estrella; Ironside, James W; van Berckel, Bart N M; Alcolea, Daniel; Wiendl, Heinz; Strickland, Samantha L; Pastor, Pau; Rodríguez Rodríguez, Eloy; Boeve, Bradley F; Petersen, Ronald C; Ferman, Tanis J; van Gerpen, Jay A; Reinders, Marcel J T; Uitti, Ryan J; Tárraga, Lluís; Maier, Wolfgang; Dols-Icardo, Oriol; Kawalia, Amit; Dalmasso, Maria Carolina; Boada, Mercè; Zettl, Uwe K; van Schoor, Natasja M; Beekman, Marian; Allen, Mariet; Masliah, Eliezer; de Munain, Adolfo López; Pantelyat, Alexander; Wszolek, Zbigniew K; Ross, Owen A; Dickson, Dennis W; Graff-Radford, Neill R; Knopman, David; Rademakers, Rosa; Lemstra, Afina W; Pijnenburg, Yolande A L; Scheltens, Philip; Gasser, Thomas; Chinnery, Patrick F; Hemmer, Bernhard; Huisman, Martijn A; Troncoso, Juan; Moreno, Fermin; Nohr, Ellen A; Sørensen, Thorkild I A; Heutink, Peter; Sánchez-Juan, Pascual; Posthuma, Danielle; Clarimón, Jordi; Christensen, Kaare; Ertekin-Taner, Nilüfer; Scholz, Sonja W; Ramirez, Alfredo; Ruiz, Agustín; Slagboom, Eline; van der Flier, Wiesje M; Holstege, Henne

Subtypes of dementia with Lewy bodies are associated with α-synuclein and tau distribution

路易体痴呆的亚型与α-突触核蛋白和tau蛋白的分布有关。

Ferman, Tanis J; Aoki, Naoya; Boeve, Bradley F; Aakre, Jeremiah A; Kantarci, Kejal; Graff-Radford, Jonathan; Parisi, Joseph E; Van Gerpen, Jay A; Graff-Radford, Neill R; Uitti, Ryan J; Pedraza, Otto; Murray, Melissa E; Wszolek, Zbigniew K; Reichard, R Ross; Fields, Julie A; Ross, Owen A; Knopman, David S; Petersen, Ronald C; Dickson, Dennis W

Association of MAPT subhaplotypes with clinical and demographic features in Parkinson's disease

MAPT亚单倍型与帕金森病临床和人口统计学特征的关联

Deutschlander, Angela B; Konno, Takuya; Soto-Beasley, Alexandra I; Walton, Ronald L; van Gerpen, Jay A; Uitti, Ryan J; Heckman, Michael G; Wszolek, Zbigniew K; Ross, Owen A

Myoclonus: An Electrophysiological Diagnosis

肌阵挛:电生理诊断

Merchant, Shabbir Hussain I; Vial-Undurraga, Felipe; Leodori, Giorgio; van Gerpen, Jay A; Hallett, Mark

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

PLCG2基因的非同义突变可降低阿尔茨海默病、路易体痴呆和额颞叶痴呆的风险,并增加长寿的可能性。

van der Lee, Sven J; Conway, Olivia J; Jansen, Iris; Carrasquillo, Minerva M; Kleineidam, Luca; van den Akker, Erik; Hernández, Isabel; van Eijk, Kristel R; Stringa, Najada; Chen, Jason A; Zettergren, Anna; Andlauer, Till F M; Diez-Fairen, Monica; Simon-Sanchez, Javier; Lleó, Alberto; Zetterberg, Henrik; Nygaard, Marianne; Blauwendraat, Cornelis; Savage, Jeanne E; Mengel-From, Jonas; Moreno-Grau, Sonia; Wagner, Michael; Fortea, Juan; Keogh, Michael J; Blennow, Kaj; Skoog, Ingmar; Friese, Manuel A; Pletnikova, Olga; Zulaica, Miren; Lage, Carmen; de Rojas, Itziar; Riedel-Heller, Steffi; Illán-Gala, Ignacio; Wei, Wei; Jeune, Bernard; Orellana, Adelina; Then Bergh, Florian; Wang, Xue; Hulsman, Marc; Beker, Nina; Tesi, Niccolo; Morris, Christopher M; Indakoetxea, Begoña; Collij, Lyduine E; Scherer, Martin; Morenas-Rodríguez, Estrella; Ironside, James W; van Berckel, Bart N M; Alcolea, Daniel; Wiendl, Heinz; Strickland, Samantha L; Pastor, Pau; Rodríguez Rodríguez, Eloy; Boeve, Bradley F; Petersen, Ronald C; Ferman, Tanis J; van Gerpen, Jay A; Reinders, Marcel J T; Uitti, Ryan J; Tárraga, Lluís; Maier, Wolfgang; Dols-Icardo, Oriol; Kawalia, Amit; Dalmasso, Maria Carolina; Boada, Mercè; Zettl, Uwe K; van Schoor, Natasja M; Beekman, Marian; Allen, Mariet; Masliah, Eliezer; de Munain, Adolfo López; Pantelyat, Alexander; Wszolek, Zbigniew K; Ross, Owen A; Dickson, Dennis W; Graff-Radford, Neill R; Knopman, David; Rademakers, Rosa; Lemstra, Afina W; Pijnenburg, Yolande A L; Scheltens, Philip; Gasser, Thomas; Chinnery, Patrick F; Hemmer, Bernhard; Huisman, Martijn A; Troncoso, Juan; Moreno, Fermin; Nohr, Ellen A; Sørensen, Thorkild I A; Heutink, Peter; Sánchez-Juan, Pascual; Posthuma, Danielle; Clarimón, Jordi; Christensen, Kaare; Ertekin-Taner, Nilüfer; Scholz, Sonja W; Ramirez, Alfredo; Ruiz, Agustín; Slagboom, Eline; van der Flier, Wiesje M; Holstege, Henne

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology

MAPT亚单倍型与进行性核上性麻痹风险和Tau蛋白病理严重程度的关联

Heckman, Michael G; Brennan, Rebecca R; Labbé, Catherine; Soto, Alexandra I; Koga, Shunsuke; DeTure, Michael A; Murray, Melissa E; Petersen, Ronald C; Boeve, Bradley F; van Gerpen, Jay A; Uitti, Ryan J; Wszolek, Zbigniew K; Rademakers, Rosa; Dickson, Dennis W; Ross, Owen A

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans

ABI3 和 PLCG2 错义变异是白种人和非裔美国人神经退行性疾病的风险因素

Conway, Olivia J; Carrasquillo, Minerva M; Wang, Xue; Bredenberg, Jenny M; Reddy, Joseph S; Strickland, Samantha L; Younkin, Curtis S; Burgess, Jeremy D; Allen, Mariet; Lincoln, Sarah J; Nguyen, Thuy; Malphrus, Kimberly G; Soto, Alexandra I; Walton, Ronald L; Boeve, Bradley F; Petersen, Ronald C; Lucas, John A; Ferman, Tanis J; Cheshire, William P; van Gerpen, Jay A; Uitti, Ryan J; Wszolek, Zbigniew K; Ross, Owen A; Dickson, Dennis W; Graff-Radford, Neill R; Ertekin-Taner, Nilüfer