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

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

优化的等位基因特异性沉默导致胶原 VI 相关营养不良的显性负性 COL6A1 G293R 替代

Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S Chen, Riley M McCarty, Carsten G Bönnemann

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

肌球蛋白伴侣 UNC-45B 的致病变异导致进行性偏心肌病

Sandra Donkervoort, Carl E Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic, Jonathan Baets, Sarah B Neuhaus, Jantima Tanboon, Reza Maroofian, Véronique Bolduc, Magdalena Mroczek, Stefan Conijn, Nancy L Kuntz, Ana Töpf, Soledad Monges, Fabiana Lubieniecki, Riley M McCarty, Katherine R