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

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data

基于机器学习的可穿戴传感器数据分析对X连锁肌张力障碍帕金森综合征进行运动功能评估

Parisi, Federico; Corniani, Giulia; Bonato, Paolo; Balkwill, David; Acuna, Patrick; Go, Criscely; Sharma, Nutan; Stephen, Christopher D

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

Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism

X连锁肌张力障碍帕金森病患者的声音和与声音相关的生活质量进行性下降

Song, Sungjin A; Go, Criscely L; Acuna, Patrick B; De Guzman, Jan Kristopher Palentinos; Sharma, Nutan; Song, Phillip C

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

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

Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism

阶段性膝关节弯曲肌张力障碍和帕金森病步态:X连锁肌张力障碍帕金森病的特征性表现

Stephen, Christopher D; Go, Criscely L; Acuna, Patrick; Sharma, Nutan