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

Splicing the narrative: alternative TARDBP splicing and its relation to neurodegeneration in ALS and FTD

叙事拼接:TARDBP 选择性剪接及其与 ALS 和 FTD 神经退行性变的关系

Miller, Morgan R; Dykstra, Megan; Barmada, Sami

Rsp5/NEDD4 and ESCRT regulate TDP-43 toxicity and turnover via an endolysosomal clearance mechanism.

Rsp5/NEDD4 和 ESCRT 通过内溶酶体清除机制调节 TDP-43 的毒性和周转。

Byrd Aaron, Marmorale Lucas J, Marcinowski Sophia, Dykstra Megan M, Addison Vanessa, Barmada Sami J, Buchan J Ross

Inhibiting Glycogen Synthase Kinase 3 Suppresses TDP-43-Mediated Neurotoxicity in a Caspase-Dependent Manner.

抑制糖原合成酶激酶 3 可抑制 TDP-43 介导的神经毒性,且该抑制作用依赖于半胱天冬酶。

White Matthew Anthony, Crowley Leon, Massenzio Francesca, Li Xingli, Niblock Michael, Milani Sara, Coleman Michael Philip, Barmada Sami J, Sreedharan Jemeen

Clinically Suspected Neurodegeneration in Histiocytic Neoplasms as Causes of Neurologic Decline: A Retrospective Study

组织细胞肿瘤中临床疑似神经退行性变是导致神经功能下降的原因:一项回顾性研究

Barmada, Amir; Go, Ronald S; Benson, John C; Goyal, Gaurav; Tobin, W Oliver

Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation

神经退行性疾病风险变异促进溶酶体TMEM106B原纤维的积累。

Replogle, John Michael; Marks, Jordan D; Fernandez, Martin G; Yuan, Hebao; Yu, Dahyun; Winters, Elizabeth; Jawahar, Vidhya Maheswari; Deshmukh, Rishi; Sutanto, Renaldo; Kowal, Isabelle; Frankenfield, Ashley; Shi, Rachel; Carlomagno, Yari; Jansen-West, Karen; Todd, Tiffany W; Kopach, Andrii; Sandra Ndayambaje, Iradukunda; Qi, Yue A; Shantaraman, Ananth; Pozo-Cabanell, Ignacio; Sheth, Udit; Yue, Mei; Duong, Duc; Ferguson, Shawn M; Bennett, David A; Damme, Markus; Boeve, Brad F; Day, Gregory S; Kellman, Benjamin; Skarnes, William C; Petersen, Ronald C; Josephs, Keith A; Graff-Radford, Neill R; McDonough, Justin A; Prudencio, Mercedes; Barmada, Sami J; Zhang, Yongjie; Hao, Ling; DeTure, Michael; Rawlinson, Bailey; Engelberg-Cook, Erica; Casey, Monica Castanedes; Perez, Nathan; Dickson, Dennis W; Wingo, Aliza; Liu, Yue; Seyfried, Nicholas T; Wingo, Thomas S; Mosalaganti, Shyamal; Petrucelli, Leonard; Ward, Michael E

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Psychotropic medication usage in sporadic versus genetic behavioral-variant frontotemporal dementia

散发性与遗传性行为变异型额颞叶痴呆患者使用精神药物的情况

Vargas-Gonzalez, Juan-Camilo; Dimal, Nico; Cortez, Kasey; Heuer, Hilary; Forsberg, Leah K; Appleby, Brian S; Barmada, Sami; Bozoki, Andrea; Clark, David; Cobigo, Yann; Darby, R Ryan; Dickerson, Bradford C; Domoto-Reilly, Kimiko; Galasko, Douglas R; Geschwind, Daniel H; Ghoshal, Nupur; Graff-Radford, Neill R; Grant, Ian M; Irwin, David; Hsiung, Ging-Yuek Robin; Honig, Lawrence S; Kantarci, Kejal; Léger, Gabriel C; Litvan, Irene; Mackenzie, Ian R; Masdeu, Joseph C; Mendez, Mario F; Onyike, Chiadi U; Pascual, Belen; Pressman, Peter; Ramos, Eliana Marisa; Roberson, Erik D; Rogalski, Emily; Boeve, Brad F; Boxer, Adam L; Rosen, Howie J; Tartaglia, Maria Carmela

Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia

行为变异型额颞叶痴呆临床表型的性别差异

Liu, Xulin; de Boer, Sterre C M; Cortez, Kasey; Poos, Jackie M; Illán-Gala, Ignacio; Heuer, Hilary; Forsberg, Leah K; Casaletto, Kaitlin; Memel, Molly; Appleby, Brian S; Barmada, Sami; Bozoki, Andrea; Clark, David; Cobigo, Yann; Darby, Ryan; Dickerson, Bradford C; Domoto-Reilly, Kimiko; Galasko, Douglas R; Geschwind, Daniel H; Ghoshal, Nupur; Graff-Radford, Neill R; Grant, Ian M; Hsiung, Ging-Yuek Robin; Honig, Lawrence S; Huey, Edward D; Irwin, David; Kantarci, Kejal; Léger, Gabriel C; Litvan, Irene; Mackenzie, Ian R; Masdeu, Joseph C; Mendez, Mario F; Onyike, Chiadi U; Pascual, Belen; Pressman, Peter; Bayram, Ece; Ramos, Eliana Marisa; Roberson, Erik D; Rogalski, Emily; Bouzigues, Arabella; Russell, Lucy L; Foster, Phoebe H; Ferry-Bolder, Eve; Masellis, Mario; van Swieten, John; Jiskoot, Lize; Seelaar, Harro; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonça, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Pasquier, Florence; Ducharme, Simon; Butler, Chris R; Ber, Isabelle Le; Finger, Elizabeth; Rowe, James B; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Boeve, Brad F; Boxer, Adam L; Rosen, Howie J; Pijnenburg, Yolande A L; Rohrer, Jonathan D; Tartaglia, Maria Carmela

Early-life human CD8(+) T cells exhibit rapid, short-lived effector responses and a unique transcription factor landscape.

早期人类 CD8(+) T 细胞表现出快速、短暂的效应反应和独特的转录因子图谱

Brodsky Nina N, Chakder Monisha, Kumar Dinesh Babu Uthaya, Barmada Anis, Wang Julia, Gu Weihong, Olaloye Oluwabunmi, Ramaswamy Anjali, Wats Aanchal, Konnikova Liza, Lucas Carrie L

TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms

TDP43 的自身调控产生显性负性异构体,这些异构体受到转录和翻译后机制的严格控制。

Megan M Dykstra,Kaitlin Weskamp,Nicolás B Gómez,Jacob Waksmacki,Elizabeth Tank,M Rebecca Glineburg,Allison Snyder,Emile Pinarbasi,Michael Bekier,Xingli Li,Morgan R Miller,Jen Bai,Shameena Shahzad,Neha Nedumaran,Clare Wieland,Corey Stewart,Sydney Willey,Nikolas Grotewold,Jonathon McBride,John J Moran,Aditya V Suryakumar,Michael Lucas,Peter M Tessier,Michael Ward,Peter K Todd,Sami J Barmada