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

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

孤立性肌张力障碍的遗传风险因素逃逸全基因组关联研究

Laabs, Björn-Hergen; Lohmann, Katja; Vollstedt, Eva-Juliane; Reinberger, Tobias; Nuxoll, Lisa-Marie; Kilic-Berkmen, Gamze; Perlmutter, Joel S; Loens, Sebastian; Cruchaga, Carlos; Franke, Andre; Dobricic, Valerija; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B; Duque, Kevin R; Espay, Alberto J; Ferbert, Andreas; Feuerstein, Jeanne S; Frank, Samuel; Gasser, Thomas; Haslinger, Bernhard; Jech, Robert; Kaiser, Frank; Kamm, Christoph; Kollewe, Katja; Kühn, Andrea A; LeDoux, Mark S; Lohmann, Ebba; Mahajan, Abhimanyu; Münchau, Alexander; Multhaupt-Buell, Trisha; Pantelyat, Alexander; Pirio Richardson, Sarah E; Raymond, Deborah; Reich, Stephen G; Saunders Pullman, Rachel; Schormair, Barbara; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane; Wright, Laura J; Zech, Michael; Zeuner, Kirsten E; Zittel, Simone; Kasten, Meike; Sun, Yan V; Bäumer, Tobias; Brüggemann, Norbert; Ozelius, Laurie J; Jinnah, Hyder A; Klein, Christine; König, Inke R

Establishing a natural history of X-linked dystonia parkinsonism

建立X连锁肌张力障碍帕金森综合征的自然史

Acuna, Patrick; Supnet-Wells, Melanie Leigh; Spencer, Neil A; de Guzman, Jan Kristoper; Russo, Massimiliano; Hunt, Ann; Stephen, Christopher; Go, Criscely; Carr, Samuel; Ganza, Niecy Grace; Lagarde, John Benedict; Begalan, Shin; Multhaupt-Buell, Trisha; Aldykiewicz, Gabrielle; Paul, Lisa; Ozelius, Laurie; Bragg, D Cristopher; Perry, Bridget; Green, Jordan R; Miller, Jeffrey W; Sharma, Nutan

Two Transient Receptor Potential Channels at Focal Adhesions

粘着斑处的两个瞬时受体电位通道

Ioli Mitsou, Cathrine Rein Carlson, Hinke A B Multhaupt, Cord Brakebusch, John R Couchman

Sustained activation in basal ganglia and cerebellum after repetitive movement in a non-task-specific dystonia

非任务特异性肌张力障碍患者在重复运动后基底神经节和小脑持续激活

Kuster, John K; Levenstein, Jacob M; Waugh, Jeff; Multhaupt-Buell, Trisha J; Lee, Myung Joo; Kim, Byoung Woo; Pagnacco, Guido; Makhlouf, Miriam L; Sudarsky, Lewis R; Breiter, Hans C; Sharma, Nutan; Blood, Anne J

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

更正:与X连锁肌张力障碍帕金森综合征相关的CCCTCT重复序列的组织特异性和重复长度依赖性体细胞不稳定性

Campion, Lindsey N; Mejia Maza, Alan; Yadav, Rachita; Penney, Ellen B; Murcar, Micaela G; Correia, Kevin; Gillis, Tammy; Fernandez-Cerado, Cara; Velasco-Andrada, M Salvie; Legarda, G Paul; Ganza-Bautista, Niecy G; Lagarde, J Benedict B; Acuña, Patrick J; Multhaupt-Buell, Trisha; Aldykiewicz, Gabrielle; Supnet, Melanie L; De Guzman, Jan K; Go, Criscely; Sharma, Nutan; Munoz, Edwin L; Ang, Mark C; Diesta, Cid Czarina E; Bragg, D Cristopher; Ozelius, Laurie J; Wheeler, Vanessa C

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

X连锁肌张力障碍帕金森综合征相关CCCTCT重复序列的组织特异性和重复长度依赖性体细胞不稳定性

Campion, Lindsey N; Mejia Maza, Alan; Yadav, Rachita; Penney, Ellen B; Murcar, Micaela G; Correia, Kevin; Gillis, Tammy; Fernandez-Cerado, Cara; Velasco-Andrada, M Salvie; Legarda, G Paul; Ganza-Bautista, Niecy G; Lagarde, J Benedict B; Acuña, Patrick J; Multhaupt-Buell, Trisha; Aldykiewicz, Gabrielle; Supnet, Melanie L; De Guzman, Jan K; Go, Criscely; Sharma, Nutan; Munoz, Edwin L; Ang, Mark C; Diesta, Cid Czarina E; Bragg, D Cristopher; Ozelius, Laurie J; Wheeler, Vanessa C

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

识别与年龄相关的X连锁肌张力障碍-帕金森综合征外显率的遗传修饰因子

Laabs, Björn-Hergen; Klein, Christine; Pozojevic, Jelena; Domingo, Aloysius; Brüggemann, Norbert; Grütz, 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; Müller, Ulrich; Hanssen, Henrike; Kilpert, Fabian; Franke, Andre; Rolfs, Arndt; Bauer, Peter; Dobričić, Valerija; Lohmann, Katja; Ozelius, Laurie J; Kaiser, Frank J; König, Inke R; Westenberger, Ana

The dystonia gene THAP1 controls DNA double-strand break repair choice

肌张力障碍基因 THAP1 控制 DNA 双链断裂修复选择

Kenta Shinoda, Dali Zong, Elsa Callen, Wei Wu, Lavinia C Dumitrache, Frida Belinky, Raj Chari, Nancy Wong, Momoko Ishikawa, Andre Stanlie, Trisha Multhaupt-Buell, Nutan Sharma, Laurie Ozelius, Michelle Ehrlich, Peter J McKinnon, André Nussenzweig

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism

TAF1转录本和神经丝轻链作为X连锁肌张力障碍-帕金森综合征的生物标志物

Al Ali, Jamal; Vaine, Christine A; Shah, Shivangi; Campion, Lindsey; Hakoum, Ahmad; Supnet, Melanie L; Acuña, Patrick; Aldykiewicz, Gabrielle; Multhaupt-Buell, Trisha; Ganza, Niecy G M; Lagarde, John B B; De Guzman, Jan K; Go, Criscely; Currall, Benjamin; Trombetta, Bianca; Webb, Pia K; Talkowski, Michael; Arnold, Steven E; Cheah, Pike S; Ito, Naoto; Sharma, Nutan; Bragg, D Cristopher; Ozelius, Laurie; Breakefield, Xandra O

Isolated Cervical Dystonia: Management and Barriers to Care

孤立性颈肌张力障碍:管理和治疗障碍

Supnet, Melanie Leigh; Acuna, Patrick; Carr, Samuel J; Kristoper de Guzman, Jan; Al Qahtani, Xena; Multhaupt-Buell, Trisha; Francoeur, Taylor; Aldykiewicz, Gabrielle E; Alluri, Priyanka R; Campion, Lindsey; Paul, Lisa; Ozelius, Laurie; Penney, Ellen B; Stephen, Christopher D; Dy-Hollins, Marisela; Sharma, Nutan