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

NAD(+) dyshomeostasis in RYR1-related myopathies

RYR1相关肌病中的NAD(+)稳态失衡

Lawal, Tokunbor A; Riekhof, Willa; Groom, Linda; Varma, Pooja; Chrismer, Irene C; Kokkinis, Angela; Grunseich, Christopher; Witherspoon, Jessica W; Razaqyar, Muslima S; Sinaii, Ninet; Meilleur, Katherine G; Xiang, Lichen; Buzkova, Jana; Euro, Liliya; Mohassel, Payam; Dirksen, Robert T; Todd, Joshua J

Long-Term Neurocognitive Outcomes in Pediatric Nonfatal Drowning: Results of a Family Caregiver Survey

儿童非致命性溺水的长期神经认知结局:一项家庭照护者调查的结果

Razaqyar, Muslima S; Osta, Eri; Towne, Jonathan M; Woolsey, Mary D; Ishaque, Mariam; Chiang, Florence L; Fox, Peter T

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

细胞内钙泄漏作为RYR1相关肌病的一种治疗靶点

Kushnir, Alexander; Todd, Joshua J; Witherspoon, Jessica W; Yuan, Qi; Reiken, Steven; Lin, Harvey; Munce, Ross H; Wajsberg, Benjamin; Melville, Zephan; Clarke, Oliver B; Wedderburn-Pugh, Kaylee; Wronska, Anetta; Razaqyar, Muslima S; Chrismer, Irene C; Shelton, Monique O; Mankodi, Ami; Grunseich, Christopher; Tarnopolsky, Mark A; Tanji, Kurenai; Hirano, Michio; Riazi, Sheila; Kraeva, Natalia; Voermans, Nicol C; Gruber, Angela; Allen, Carolyn; Meilleur, Katherine G; Marks, Andrew R

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies

N-乙酰半胱氨酸治疗RYR1相关肌病的随机对照试验

Todd, Joshua J; Lawal, Tokunbor A; Witherspoon, Jessica W; Chrismer, Irene C; Razaqyar, Muslima S; Punjabi, Monal; Elliott, Jeffrey S; Tounkara, Fatoumata; Kuo, Anna; Shelton, Monique O; Allen, Carolyn; Cosgrove, Mary M; Linton, Melody; Michael, Darren; Jain, Minal S; Waite, Melissa; Drinkard, Bart; Wakim, Paul G; Dowling, James J; Bönnemann, Carsten G; Emile-Backer, Magalie; Meilleur, Katherine G

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