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

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

抗HMGCR肌病可能类似于肢带型肌营养不良症

Mohassel, Payam; Landon-Cardinal, Océane; Foley, A Reghan; Donkervoort, Sandra; Pak, Katherine S; Wahl, Colleen; Shebert, Robert T; Harper, Amy; Fequiere, Pierre; Meriggioli, Matthew; Toro, Camilo; Drachman, Daniel; Allenbach, Yves; Benveniste, Olivier; Béhin, Anthony; Eymard, Bruno; Lafôret, Pascal; Stojkovic, Tanya; Mammen, Andrew L; Bönnemann, Carsten G

Treatment-induced remission of medulloblastoma using a chemotherapeutic regimen devoid of vincristine in a child with Charcot-Marie-Tooth disease

在患有夏科-马里-图斯病的儿童中,采用不含长春新碱的化疗方案治疗后,髓母细胞瘤得到缓解。

Bernstock, J D; Cohen, J L; Singh, S; Schlappi, C W; Fiveash, J B; Johnston, J M; Fequiere, P; Orr, B A; Li, R; Friedman, G K

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

RYR1相关先天性肌病患者的新变异:遗传学、实验室和临床发现

Todd, Joshua J; Razaqyar, Muslima S; Witherspoon, Jessica W; Lawal, Tokunbor A; Mankodi, Ami; Chrismer, Irene C; Allen, Carolyn; Meyer, Mary D; Kuo, Anna; Shelton, Monique S; Amburgey, Kim; Niyazov, Dmitriy; Fequiere, Pierre; Bönnemann, Carsten G; Dowling, James J; Meilleur, Katherine G

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations

大型突变引起的肌营养不良症的临床、病理和突变谱

Katherine G Meilleur, Kristen Zukosky, Livija Medne, Pierre Fequiere, Nina Powell-Hamilton, Thomas L Winder, Abdulaziz Alsaman, Ayman W El-Hattab, Jahannaz Dastgir, Ying Hu, Sandra Donkervoort, Jeffrey A Golden, Ralph Eagle, Richard Finkel, Mena Scavina, Ian C Hood, Lucy B Rorke-Adams, Carsten G Bön