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

X-Linked Dystonia-Parkinsonism in a Manifesting Female: First Case Report of Deep Brain Stimulation

X连锁肌张力障碍-帕金森综合征在一名女性患者中的表现:首例深部脑刺激治疗病例报告

Bautista, Andrea Nichole D; Rosales, Raymond L; Diesta, Cid Czarina E; Oropilla, Jean Quint; Westenberger, Ana; Brüggemann, Norbert; Klein, Christine

Dystonic tremor in Writer's cramp Mimicking primary handwriting tremor

书写痉挛引起的肌张力障碍性震颤,模仿原始手写震颤

Cataniag, Paulo; Suratos, Cezar Thomas; Diesta, Cid Czarina; Ong, Jed Noel

Transient Perioperative Aggressive Behavior during Subthalamic Nucleus Deep Brain Stimulation for Parkinson's disease

帕金森病患者接受丘脑底核深部脑刺激术期间出现的短暂性围手术期攻击行为

Cataniag, Paulo; Ong, Jed Noel; Teleg, Rosalia; Piano, Anthony; Bernardo, Carmina Charmaine; Holandez, Rachelle; Oropilla, Jean Quint; Diesta, Cid Czarina

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

Myelin pathology is a key feature of X-linked Dystonia Parkinsonism

髓鞘病变是X连锁肌张力障碍帕金森综合征的关键特征。

Prakash, Priya; Limberg, Kerry C; Zhang, Weimin; Zhao, Yu; Laborc, Klaudia F; O'Keeffe, Anna; Vilnaigre, Bryanna C; Appleby, Heather; O'Dea, Michael R; Fernandez-Cerado, Cara; Legarda, Gierold Paul A; Sy, Michelle; Muñoz, Edwin L; Ang, Mark Angelo C; Diesta, Cid Czarina E; Han, Justin; Norenberg, Ean; Penney, Ellen B; Bragg, D Cristopher; Mar, Adam C; Brosh, Ran; Boeke, Jef D; Liddelow, Shane A

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

Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers

X连锁肌张力障碍-帕金森综合征患者及女性携带者的神经能量变化

Prasuhn, Jannik; Henkel, Julia; Algodon, Shela Marie; Uter, Jan; Rosales, Raymond L; Klein, Christine; Steinhardt, Julia; Diesta, Cid C; Brüggemann, Norbert

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