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

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

TRAPPC11 相关肌营养不良症，伴有骨骼肌和脑中 α-肌营养不良聚糖的低糖基化

期刊:Neuropathology and Applied Neurobiology
影响因子:4
doi:10.1111/nan.12771
Pinki Munot, Nadine McCrea, Silvia Torelli, Adnan Manzur, Caroline Sewry, Darren Chambers, Lucy Feng, Pierpaolo Ala, Irina Zaharieva, Nicola Ragge, Helen Roper, Tamas Marton, Phil Cox, Miroslav P Milev, Wen-Chen Liang, Shinsuke Maruyama, Ichizo Nishino, Michael Sacher, Rahul Phadke, Francesco Munton
信号转导
发表日期：2022
文献求助 收藏

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

INPP5K 基因突变（编码一种磷酸肌醇 5-磷酸酶）可导致先天性肌营养不良症、白内障和轻度认知障碍

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.01.024
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G Bönnemann, Osório Abath Neto, Umbertina C Reed, Edmar Zanoteli, Cristiane Ara
信号转导
发表日期：2017
文献求助 收藏

Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy

2-芳基苯并恶唑肌营养不良症儿科患者单剂量和多剂量给药后的 SMT C1100（一种 2-芳基苯并恶唑肌营养不良调节剂）的安全性、耐受性和药代动力学

期刊:PLoS One
影响因子:2.9
doi:10.1371/journal.pone.0152840
Valeria Ricotti, Stefan Spinty, Helen Roper, Imelda Hughes, Bina Tejura, Neil Robinson, Gary Layton, Kay Davies, Francesco Muntoni, Jonathon Tinsley
发表日期：2016
文献求助 收藏

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

ISPD 基因突变是先天性和肢带型肌营养不良症的常见原因

期刊:Brain
影响因子:10.6
doi:10.1093/brain/aws312
Sebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Elizabeth Stevens, Silvia Torelli, Lina Brodd, Alisa Kamynina, Petr Vondracek, Helen Roper, Cheryl Longman, Rudolf Korinthenberg, Gianni Marrosu, Peter Nürnberg; UK10K Consortium; Daniel E Michele, Vincent Plagnol, Matt Hu
发表日期：2013
文献求助 收藏