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

Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1

对人类尿液细胞外囊泡的分析揭示了1型强直性肌营养不良症患者的肾脏代谢紊乱

Preeti Kumari,Lauren M Sullivan,Zhaozhi Li,E Parker Conquest,Elizabeth Cornforth,Rojashree Jayakumar,Ningyan Hu,J Alexander Sizemore,Brigham B McKee,Robert R Kitchen,Paloma González-Pérez,Constance Linville,Karla Castro,Hilda Gutierrez,Soleil Samaan,Elise L Townsend,Basil T Darras,Seward B Rutkove,Susan T Iannaccone,Paula R Clemens,Araya Puwanant,Sudeshna Das,Thurman M Wheeler

Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy

肝细胞内在 SMN 缺乏导致脊髓性肌萎缩症中的代谢功能障碍和肝脏脂肪变性

Damien Meng-Kiat Leow, Yang Kai Ng, Loo Chien Wang, Hiromi Wl Koh, Tianyun Zhao, Zi Jian Khong, Tommaso Tabaglio, Gunaseelan Narayanan, Richard M Giadone, Radoslaw M Sobota, Shi-Yan Ng, Adrian Kk Teo, Simon H Parson, Lee L Rubin, Wei-Yi Ong, Basil T Darras, Crystal Jj Yeo

Neurofilament as a potential biomarker for spinal muscular atrophy

神经丝作为脊髓性肌萎缩症的潜在生物标志物

Basil T Darras, Thomas O Crawford, Richard S Finkel, Eugenio Mercuri, Darryl C De Vivo, Maryam Oskoui, Eduardo F Tizzano, Monique M Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J Sumner

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

TRPV4基因纯合突变会导致先天性远端脊髓性肌萎缩和关节挛缩症。

Jose Velilla ,Michael Mario Marchetti ,Agnes Toth-Petroczy ,Claire Grosgogeat ,Alexis H Bennett ,Nikkola Carmichael ,Elicia Estrella ,Basil T Darras ,Natasha Y Frank ,Joel Krier ,Rachelle Gaudet ,Vandana A Gupta

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

NeuroNEXT 脊髓性肌萎缩症婴儿生物标志物研究的基线结果

Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T Iannaccone, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, 

SMA-MAP: a plasma protein panel for spinal muscular atrophy

SMA-MAP:脊髓性肌萎缩症的血浆蛋白组

Dione T Kobayashi, Jing Shi, Laurie Stephen, Karri L Ballard, Ruth Dewey, James Mapes, Brett Chung, Kathleen McCarthy, Kathryn J Swoboda, Thomas O Crawford, Rebecca Li, Thomas Plasterer, Cynthia Joyce; Biomarkers for Spinal Muscular Atrophy Study Group; Wendy K Chung, Petra Kaufmann, Basil T Darras,

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

使用通用条件直接测序自动检测 DNA 突变:应用于十种肌营养不良症基因

Richard R Bennett, Hal E Schneider, Elicia Estrella, Stephanie Burgess, Andrew S Cheng, Caitlin Barrett, Va Lip, Poh San Lai, Yiping Shen, Bai-Lin Wu, Basil T Darras, Alan H Beggs, Louis M Kunkel