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

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

MSH3 是 X 连锁肌张力障碍帕金森病中体细胞重复序列不稳定性的一种遗传修饰因子。

Mejia Maza Alan, Hincher Madison, Correia Kevin, Gillis Tammy, Nishiyama Ayumi, Penney Ellen B, Domingo Aloysius, Yadav Rachita, Murcar Micaela G, Villafria Mercado Patrick D, Han Justin S, Norenberg Ean P, Fernandez-Cerado Cara, Legarda G Paul, Sy Michelle, Muñoz Edwin L, Ang Mark C, Diesta Cid Czarina E, Go Criscely, Sharma Nutan, Bragg D Cristopher, Talkowski Michael E, MacDonald Marcy E, Lee Jong-Min, Ozelius Laurie J, Wheeler Vanessa Chantal

Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism

快速起病型肌张力障碍-帕金森综合征患者灰质体积的结构改变

Haq, Ihtsham U; Simonyan, Kristina; Napoli, Eleonora; Ozelius, Laurie J; Snively, Beverly M; Whitlow, Christopher T; Sweadner, Kathleen J; Brashear, Allison

Pathogenic Variants in ATP1A3: Why Is There So Much Confusion?

ATP1A3 的致病变异:为什么会有这么多误解?

Sweadner, Kathleen J; Arystarkhova, Elena; Haq, Ihtsham U; Brashear, Allison; Ozelius, Laurie J

Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time

快速起病的肌张力障碍-帕金森综合征的神经学和精神病学特征随时间的变化

Haq, Ihtsham U; Napoli, Eleonora; Snively, Beverly M; Sarno, Marina L; Sweadner, Kathleen J; Ozelius, Laurie J; Brashear, Allison

The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia

伏特加试验:喉肌张力障碍酒精反应性的临床和遗传特征

O'Flynn, Lena C; Domingo, Aloysius; Hamzehei Sichani, Azadeh; Nishiyama, Ayumi; Hincher, Madison; Yadav, Rachita; Ozelius, Laurie J; Simonyan, Kristina

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

MSH3是X连锁肌张力障碍帕金森病中体细胞重复序列不稳定性的一种遗传修饰因子。

Maza, Alan Mejia; Hincher, Madison; Correia, Kevin; Gillis, Tammy; Nishiyama, Ayumi; Penney, Ellen B; Domingo, Aloysius; Yadav, Rachita; Murcar, Micaela G; Mercado, Patrick D Villafria; Han, Justin S; Norenberg, Ean P; Fernandez-Cerado, Cara; Legarda, G Paul; Sy, Michelle; Muñoz, Edwin; Ang, Mark C; Diesta, Cid Czarina E; Go, Criscely; Sharma, Nutan; Bragg, D Cristopher; Talkowski, Michael E; MacDonald, Marcy E; Lee, Jong-Min; Ozelius, Laurie J; Wheeler, Vanessa Chantal

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

针对X连锁肌张力障碍帕金森病中由致命性非编码结构变异引起的替代剪接进行治疗靶向治疗

Yadav, Rachita; Vaine, Christine A; Domingo, Aloysius; Reed, Siddharth; Shah, Shivangi; Gao, Dadi; O'Keefe, Kathryn; Salani, Monica; Lemanski, John; Bhavsar, Riya; McMahon, Moira A; Jackson, Michaela; Courtney, Margo; Murcar, Micaela G; Fernandez-Cerado, Cara; Legarda, Gierold Paul A; Sy, Michelle; Velasco-Andrada, M Salvie; Muñoz, Edwin L; Ang, Mark Angelo C; Diesta, Cid Czarina E; Erdin, Serkan; Penney, Ellen B; Ozelius, Laurie; Sharma, Nutan; Bennett, C Frank; Bragg, D Cristopher; Talkowski, Michael E

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

Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease

纽约波多黎各裔和多米尼加裔帕金森病患者的遗传风险变异

Miltenberger-Miltenyi, Gabriel; Ortega, Roberto A; Domingo, Aloysius; Yadav, Rachita; Nishiyama, Ayumi; Raymond, Deborah; Katsnelson, Viktoriya; Urval, Nikita; Swan, Matthew; Shanker, Vicki; Miravite, Joan; Walker, Ruth H; Bressman, Susan B; Ozelius, Laurie J; Cabassa, José C; Saunders-Pullman, Rachel

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