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

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

Targeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism.

靶向髓过氧化物酶以减少X连锁肌张力障碍帕金森病中的神经炎症

Petrozziello Tiziana, Motlagh Negin Jalali, Monsanto Ranee Zara B, Lei Dan, Murcar Micaela G, Penney Ellen B, Bragg D Cristopher, Fernandez-Cerado Cara, Legarda G Paul, Sy Michelle, Muñoz Edwin, Ang Mark C, Diesta Cid Czarina E, Zhang Can, Tanzi Rudolph E, Qureshi Irfan A, Chen John W, Sadri-Vakili Ghazaleh

Targeting myeloperoxidase to reduce neuroinflammation in X-linked dystonia parkinsonism

靶向髓过氧化物酶以减少X连锁肌张力障碍帕金森综合征中的神经炎症

Petrozziello, Tiziana; Motlagh, Negin J; Monsanto, Ranee Z B; Lei, Dan; Murcar, Micaela G; Penney, Ellen B; Bragg, D Cristopher; Fernandez-Cerado, Cara; Legarda, G Paul; Sy, Michelle; Muñoz, Edwin; Ang, Mark C; Diesta, Cid Czarina E; Zhang, Can; Tanzi, Rudolph E; Qureshi, Irfan A; Chen, John W; Sadri-Vakili, Ghazaleh

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

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism

肌张力障碍脑库的前景与挑战:建立用于研究 X 连锁肌张力障碍-帕金森病的人体组织库

Cara Fernandez-Cerado, G Paul Legarda, M Salvie Velasco-Andrada, Abegail Aguil, Niecy G Ganza-Bautista, J Benedict B Lagarde, Jasmin Soria, Roland Dominic G Jamora, Patrick J Acuña, Charles Vanderburg, Ellen Sapp, Marian DiFiglia, Micaela G Murcar, Lindsey Campion, Laurie J Ozelius, Amy K Alessi, Ma