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

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.

在SCA1中,PolyQ序列的毒性与长度有关,且不存在CAG重复序列中断

Nethisinghe Suran, Pigazzini Maria Lucia, Pemble Sally, Sweeney Mary G, Labrum Robyn, Manso Katarina, Moore David, Warner Jon, Davis Mary B, Giunti Paola

Prevalence study of genetically defined skeletal muscle channelopathies in England

英国遗传性骨骼肌离子通道病患病率研究

Horga, Alejandro; Raja Rayan, Dipa L; Matthews, Emma; Sud, Richa; Fialho, Doreen; Durran, Siobhan C M; Burge, James A; Portaro, Simona; Davis, Mary B; Haworth, Andrea; Hanna, Michael G

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Dravet综合征作为癫痫性脑病:来自长期病程和神经病理学的证据

Catarino, Claudia B; Liu, Joan Y W; Liagkouras, Ioannis; Gibbons, Vaneesha S; Labrum, Robyn W; Ellis, Rachael; Woodward, Cathy; Davis, Mary B; Smith, Shelagh J; Cross, J Helen; Appleton, Richard E; Yendle, Simone C; McMahon, Jacinta M; Bellows, Susannah T; Jacques, Thomas S; Zuberi, Sameer M; Koepp, Matthias J; Martinian, Lillian; Scheffer, Ingrid E; Thom, Maria; Sisodiya, Sanjay M