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S

Sarah J. Tabrizi

university college london
H指数:100
被引数:3.7万

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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

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
IF3
2025-11-010
OA
Yamamoto, 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
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

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2024-10-230
OAAI
Koriath, 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.
Increased frequency of repeat expansion mutations across different populations

不同人群重复扩增突变的频率增加

NATURE MEDICINE
IF50
2024-10-013
OAAI
Ibanez, 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
The Huntington's Disease Gene Discovery
MOVEMENT DISORDERS
IF7.6
2024-01-051
PRE
Franklin, 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.
Tominersen in Adults with Manifest Huntington's Disease
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2023-12-0725
OA
McColgan, 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

研究方向

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R
Rachael I. Scahill
H 指数:60论文数:290被引数:1.9万
B
Blair R. Leavitt
H 指数:86论文数:395被引数:3.1万
A
Alexandra Dürr
H 指数:119论文数:860被引数:5.9万
G
Geraint Rees
H 指数:106论文数:611被引数:4.6万
E
Edward J. Wild
H 指数:53论文数:204被引数:1.2万
D
Douglas R. Langbehn
H 指数:61论文数:243被引数:1.6万
S
Sarah Gregory
H 指数:30论文数:100被引数:2,546
G
G. Bernhard Landwehrmeyer
H 指数:84论文数:852被引数:2.8万
R
Raymund A.C. Roos
H 指数:71论文数:423被引数:1.8万
J
Julie C. Stout
H 指数:77论文数:411被引数:2.3万