日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA

斑马鱼在基因变异检测中的临床意义:SMN1/SMA 的原理验证

Stringer, Brett W; Zhang, Yougang; Taghipour-Sheshdeh, Afsaneh; Goh, Shuxiang; Kölbel, Heike; Farrar, Michelle A; Wirth, Brunhilde; Giacomotto, Jean

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

通过SMA新生儿筛查假阳性结果识别出的SMN1变异:治疗难题及功能和流行病学解决方案

Wirth, Brunhilde; Das, Joyosmita; Kölbel, Heike; Goh, Shuxiang; Farrar, Michelle A; Piano, Valentina; Zetzsche, Sebastian; Fuhrmann, Nico; Becker, Jutta; Karakaya, Mert; Zhang, Yougang; Cao, Yuqing; Taghipour-Sheshdeh, Afsaneh; Stringer, Brett W; Giacomotto, Jean

Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction

在遗传性干扰素病患者的脑脊液中发现的肠道代谢物支持肠-脑内皮功能障碍的观点。

Dale, Russell C; Elbourne, Madysen; Hofer, Markus J; Patel, Shrujna; Mohammad, Shekeeb; Han, Velda X; Yu, Josephine; Fu, Shanlin; D'Silva, Arlene; Farrar, Michelle A; Bandodkar, Sushil; Yan, Jingya J

Structural characterization of antibody-responses following Zolgensma treatment for AAV capsid engineering to expand patient cohorts.

对Zolgensma治疗后抗体反应的结构进行表征,以进行AAV衣壳工程改造,从而扩大患者群体

Mietzsch Mario, Hsi Jane, Nelson Austin R, Khandekar Neeta, Huang Ann-Maree, Smith Nicholas Jc, Zachary Jon, Potts Lindsay, Farrar Michelle A, Chipman Paul, Ghanem Mohammad, Alexander Ian E, Logan Grant J, Huiskonen Juha T, McKenna Robert

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study

脑瘫患儿MRI模式的基因诊断率:一项基于人群的研究

Berry, Jesia G; Taranath, Ajay; Goetti, Robert; Farrar, Michelle A; Fiori, Simona; Pham, Huy-Dat; Mittinty, Murthy N; Corbett, Mark A; Palmer, Lyle J; Fornarino, Dani L; Harper, Kelly; Gibson, Catherine S; Leishman, Shaneen J; Goldsmith, Shona C; McIntyre, Sarah J; Montgomerie, Alicia; Pilkington, Rhiannon M; Lynch, John W; Russo, Remo N; Fahey, Michael C; Fripp, Jurgen; Boyd, Roslyn N; Wright, Margaret J; Rice, James E; Waugh, Mary-Clare; MacLennan, Alastair H; Gecz, Jozef; van Eyk, Clare L

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study

静脉注射奥那西姆诺基因阿贝帕沃韦治疗脊髓性肌萎缩症患儿的安全性和有效性:3b期SMART研究

McMillan, Hugh J; Baranello, Giovanni; Farrar, Michelle A; Zaidman, Craig M; Moreno, Teresa; De Waele, Liesbeth; Jong, Yuh-Jyh; Laugel, Vincent; Quijano-Roy, Susana; Mercuri, Eugenio; Chien, Yin-Hsiu; Straub, Volker; Darras, Basil T; Seibert, Julia; Bernardo Escudero, Roberto; Alecu, Iulian; Freischläger, Frank; Muntoni, Francesco

Neurodevelopmental screening in children with early-onset spinal muscular atrophy in the treatment era: a strengths-based cohort study

治疗时代早期脊髓性肌萎缩症患儿的神经发育筛查:一项基于优势的队列研究

Balaji, Lakshmi; Kariyawasam, Didu; Herbert, Karen; Sampaio, Hugo A; Cairns, Anita; McGill, Brittany C; Kelada, Lauren; Woolfenden, Susan; Briggs, Nancy; Farrar, Michelle A

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

婴儿癫痫痉挛综合征的病因及促肾上腺皮质激素/皮质类固醇在儿童中的作用机制:一项范围综述

Innes, Emily A; Han, Velda X; Patel, Shrujna; Farrar, Michelle A; Gill, Deepak; Mohammad, Shekeeb S; Dale, Russell C

Genetic testing in cerebral palsy with clinical and neuroimaging variables

脑瘫的基因检测及其临床和神经影像学变量

Tantsis, Esther M; Mohammad, Shekeeb S; Paget, Simon P; Virella-Perez, Yisselle I; Han, Velda X; Hadi, Dianah; Goldman, Chaya; Farrar, Michelle A; Fahey, Michael; Dale, Russell C

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening

一项关于遗传咨询师在新生儿血斑筛查呈阳性后对接受诊断的父母所起作用的探索性定性研究

Sandelowsky, Samantha A; McEwen, Alison; Russell, Jacqui; Boggs, Kirsten; Junek, Rosie; Ellaway, Carolyn; Selvanathan, Arthavan; Farrar, Michelle A; Bhattacharya, Kaustuv