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

Exercise capacity in RYR1-related myopathies

RYR1相关肌病患者的运动能力

Chin, Lisa M K; Todd, Joshua J; Chrismer, Irene C; Witherspoon, Jessica W; Jain, Minal; Waite, Melissa; Meilleur, Katherine G; Drinkard, Bart; Lawal, Tokunbor A

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial

Rycal S48168 (ARM210) 用于治疗 RYR1 相关肌病:一项 I 期、开放标签、剂量递增试验

Todd, Joshua J; Lawal, Tokunbor A; Chrismer, Irene C; Kokkinis, Angela; Grunseich, Christopher; Jain, Minal S; Waite, Melissa R; Biancavilla, Victoria; Pocock, Shavonne; Brooks, Kia; Mendoza, Christopher J; Norato, Gina; Cheung, Ken; Riekhof, Willa; Varma, Pooja; Colina-Prisco, Claudia; Emile-Backer, Magalie; Meilleur, Katherine G; Marks, Andrew R; Webb, Yael; Marcantonio, Eugene E; Foley, A Reghan; Bönnemann, Carsten G; Mohassel, Payam

Development of a proxy-reported scale to assess motor function in infants and young children with early-onset neuromuscular disorders

开发一种由代理人报告的量表,用于评估患有早期神经肌肉疾病的婴幼儿的运动功能

Capella-Peris, Carlos; Emile-Backer, Magalie; Shelton, Monique O; Chrismer, Irene C; Cosgrove, Mary M; Bendixen, Roxanna M; Meilleur, Katherine G

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

Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy

采用混合方法分析RYR1相关肌病患者在接受N-乙酰半胱氨酸治疗前后的健康相关生活质量。

Capella-Peris, Carlos; Cosgrove, Mary M; Chrismer, Irene C; Emile-Backer, Magalie; Razaqyar, M Sonia; Elliott, Jeffrey S; Kuo, Anna; Wakim, Paul G; Meilleur, Katherine G

Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience

了解RYR1相关肌病症状:基于参与者经验的混合方法分析

Capella-Peris, Carlos; Cosgrove, Mary M; Chrismer, Irene C; Razaqyar, M Sonia; Elliott, Jeffrey S; Kuo, Anna; Emile-Backer, Magalie; Meilleur, Katherine G

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

COL6相关肌营养不良症和LAMA2相关肌营养不良症临床结果指标的纵向变化

Jain, Minal S; Meilleur, Katherine; Kim, Eunhee; Norato, Gina; Waite, Melissa; Nelson, Leslie; McGuire, Michelle; Duong, Tina; Keller, Katherine; Lott, Donovan J; Glanzman, Allan; Rose, Kristy; Main, Marion; Fiorini, Courtney; Chrismer, Irene; Linton, Melody; Punjabi, Monal; Elliott, Jeffrey; Tounkara, Fatoumata; Vasavada, Ruhi; Logaraj, Ranjani; Winkert, Jocelyn; Donkervoort, Sandra; Leach, Meganne; Dastgir, Jahannaz; Hynan, Linda; Nichols, Carmel; Hartnett, Elizabeth; Averion, Gilberto M; Collins, James C; Kim, Eunice S; Kokkinis, Angela; Schindler, Alice; Zukosky, Kristen; Fee, Robert; Hinton, Veronica; Mohassel, Payam; Bharucha-Goebel, Diana; Vuillerot, Carole; McGraw, Peter; Barton, Mark; Fontana, Joseph; Rutkowski, Anne; Foley, A Reghan; Bönnemann, Carsten G

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

6分钟步行试验作为RYR1相关肌病患者队列中疾病进展和疲劳程度的指标

Witherspoon, Jessica W; Vasavada, Ruhi P; Waite, Melissa R; Shelton, Monique; Chrismer, Irene C; Wakim, Paul G; Jain, Minal S; Bönnemann, Carsten G; Meilleur, Katherine G