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Sarah J. Tabrizi

university college london

100H指数
727论文数
3.7W被引数
收录论文 371
发表时间
Huntington disease: somatic expansion, pathobiology and therapeutics亨廷顿病:体细胞扩展、病理生物学和治疗学
err2025-11-13
err0
PREAI
errJasmine Donaldson; Davina Hensman Moss; Marc Ciosi; Karen Usdin; Gabriel Balmus; Darren G. Monckton; Sarah J. Tabrizi
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Quantitative relationship between tominersen concentrations in cerebrospinal fluid and biomarker changes in Huntington's disease patients脑脊液中tominersen浓度的定量关系与亨廷顿病患者的生物标志物变化
err2025-11-01
err0
errOAAI
errYamamoto, Yumi; Silber Baumann, Hanna E.; Bjornsson, Marcus; Grimsey, Paul; Hawellek, David J.; Anderson, Karen; Leavitt, Blair R.; Landwehrmeyer, Bernhard G.; Tabrizi, Sarah; Mccolgan, Peter; Wild, Edward J.; Sanwald Ducray, Patricia
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Genetic therapies for neurological diseases神经疾病的基因疗法
err2025-10-03
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errOAAI
errAhad A. Rahim; Manju A. Kurian; Haiyan Zhou; Ross Ferguson; Sarah J. Tabrizi; Gabriele Lignani; Kristian Aquilina; Simon N. Waddington
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Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration亨廷顿氏病表型复制综合征的重新审视: 临床比较和下一代测序探索
err2024-10-23
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errOAAI
errKoriath, Carolin Anna Maria; Guntoro, Fernando; Norsworthy, Penelope; Dolzhenko, Egor; Eberle, Michael; Moss, Davina J. Hensman; Flower, Michael; Hummerich, Holger; Rosser, Anne Elizabeth; Tabrizi, Sarah J.; Mead, Simon; Wild, Edward J.
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Increased frequency of repeat expansion mutations across different populations不同人群重复扩增突变的频率增加
err2024-10-01
err3
errOAAI
errIbanez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Deforie, Valentina Galassi; Dalmia, Anupriya; Moss, Davina J. Hensman; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna
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Long-Term Health Outcomes of Huntington Disease and the Impact of Future Disease-Modifying Treatments-A Decision-Modeling Analysis
err2024-10-01
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errOAAI
errGuzauskas, Gregory F.; Tabrizi, Sarah J.; Long, Jeffrey D.; Arnesen, Astri; Hamilton, Jamie L.; Claassen, Daniel O.; Munetsi, Lorraine R.; Malik, Shahid; Rodriguez-Santana, Idaira; Ali, Talaha M.; Zhang, Frank
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Time to Functional Loss as an Endpoint in Huntington's Disease Trials: Enrichment and Sample Size作为亨廷顿病试验终点的功能丧失时间: 富集和样本量
err2024-08-05
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errOAAI
errMills, James A.; Long, Jeffrey D.; Vaidya, Jatin G.; Gantman, Emily C.; Sathe, Swati; Tabrizi, Sarah J.; Sampaio, Cristina
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Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease
err2024-06-01
err9
errOAAI
errFerguson, Ross; Goold, Robert; Coupland, Lucy; Flower, Michael; Tabrizi, Sarah J.
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Concern about Tominersen in Patients with Huntington's Disease
err2024-03-14
err0
PREAI
errReilmann, Ralf; Mccolgan, Peter; Tabrizi, Sarah J.; Doody, Rachelle S.
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Huntington's disease affects mitochondrial network dynamics predisposing to pathogenic mitochondrial DNA mutations亨廷顿氏病影响线粒体网络动力学,易感致病性线粒体DNA突变
errBRAIN
IF11.7
err2024-01-09
err3
errOAAI
errNeueder, Andreas; Kojer, Kerstin; Gu, Zhenglong; Wang, Yiqin; Hering, Tanja; Tabrizi, Sarah; Taanman, Jan-Willem; Orth, Michael
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Huntington disease alters the actionable information in plasma extracellular vesicles
err2024-01-09
err1
errOAAI
errNeueder, Andreas; Nitzschner, Philipp; Wagner, Ronja; Hummel, Julia; Hoschek, Franziska; Wagner, Maximilian; Abdelmoez, Alshaimaa; von Einem, Bjoern; Landwehrmeyer, G. Bernhard; Tabrizi, Sarah J.; Orth, Michael
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The Huntington's Disease Gene Discovery
err2024-01-05
err1
PREAI
errFranklin, Gustavo L.; Teive, Helio A. G.; Tensini, Fernando Spina; Camargo, Carlos Henrique Ferreira; de Lima, Nayra de Souza Carvalho; de dos Santos, Diego de Castro; Meira, Alex T.; Tabrizi, Sarah J.
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Prognostic enrichment for early-stage Huntington's disease: An explainable machine learning approach for clinical trial早期亨廷顿病的预后富集: 临床试验的可解释机器学习方法
err2024-01-01
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errOAAI
errGhofrani-Jahromi, Mohsen; Poudel, Govinda R.; Razi, Adeel; Abeyasinghe, Pubu M.; Paulsen, Jane S.; Tabrizi, Sarah J.; Saha, Susmita; Georgiou-Karistianis, Nellie
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Tominersen in Adults with Manifest Huntington's Disease
err2023-12-07
err25
errOAAI
errMcColgan, Peter; Thobhani, Alpa; Boak, Lauren; Schobel, Scott A.; Nicotra, Alessia; Palermo, Giuseppe; Trundell, Dylan; Zhou, Julian; Schlegel, Valerie; Ducray, Patricia Sanwald; Hawellek, David J.; Dorn, Jonas; Simillion, Cedric; Lindemann, Michael; Wheelock, Vicki; Durr, Alexandra; Anderson, Karen E.; Long, Jeffrey D.; Wild, Edward J.; Landwehrmeyer, G. Bernhard; Leavitt, Blair R.; Tabrizi, Sarah J.; Doody, Rachelle
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Genetic modifiers of repeat expansion disorders重复扩增障碍的遗传修饰语
err2023-10-20
err10
errOAAI
errRajagopal, Sangeerthana; Donaldson, Jasmine; Flower, Michael; Moss, Davina J. Hensman; Tabrizi, Sarah J.
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