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

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

反复出现的纯合ACTN2变异(p.Arg506Gly)会导致隐性遗传性肌病。

Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A; Dyment, David A; Sampson, Jacinda B; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A Reghan; Mammen, Andrew L; Wheeler, Matthew T; O'Donnell-Luria, Anne; Bönnemann, Carsten G

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

麦卡德尔病临床前研究:研究模型和治疗策略综述

Villarreal-Salazar, Mónica; Brull, Astrid; Nogales-Gadea, Gisela; Andreu, Antoni L; Martín, Miguel A; Arenas, Joaquín; Santalla, Alfredo; Lucia, Alejandro; Vissing, John; Krag, Thomas O; Pinós, Tomàs

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

层粘蛋白相关先天性肌营养不良症会改变机械信号传导和骨骼肌生长

Owens, Daniel J; Messéant, Julien; Moog, Sophie; Viggars, Mark; Ferry, Arnaud; Mamchaoui, Kamel; Lacène, Emmanuelle; Roméro, Norma; Brull, Astrid; Bonne, Gisèle; Butler-Browne, Gillian; Coirault, Catherine

Clinical utility gene card for McArdle disease

麦卡德尔病临床实用基因卡

Taylor, Rhonda L; Davis, Mark; Turner, Emma; Brull, Astrid; Pinos, Tomás; Cabrera, Macarena; Nowak, Kristen J

The Pathogenesis and Therapies of Striated Muscle Laminopathies

横纹肌层粘连蛋白病的病理机制和治疗方法

Brull, Astrid; Morales Rodriguez, Blanca; Bonne, Gisèle; Muchir, Antoine; Bertrand, Anne T

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

肌磷酸化酶功能障碍的表型后果:来自 McArdle 小鼠模型的启示

Brull Astrid, de Luna Noemí, Blanco-Grau Albert, Lucia Alejandro, Martin Miguel Angel, Arenas Joaquin, Martí Ramon, Andreu Antoni L, Pinós Tomàs

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

丙戊酸钠可增加脑糖原磷酸化酶同工酶的表达:利用小鼠原代骨骼肌体外培养寻找麦卡德尔病中的代偿机制

de Luna, Noemí; Brull, Astrid; Guiu, Josep Maria; Lucia, Alejandro; Martin, Miguel Angel; Arenas, Joaquin; Martí, Ramon; Andreu, Antoni L; Pinós, Tomàs