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

Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations

核黄素转运蛋白缺乏症患儿的长期预后及监测建议

Fennessy, Jack R; Cornett, Kayla M D; Donlevy, Gabrielle A; Mckay, Marnee J; Burns, Joshua; Menezes, Manoj P

Designing and Implementing a Web-Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot-Marie-Tooth disease

设计并实施一个基于网络的平台,用于准确可靠地测量临床结果并进行全球认证,以评估夏科-马里-图斯病。

Cornett, Kayla M D; Estilow, Tim; Bray, Paula; Mandarakas, Melissa R; Donlevy, Gabrielle A; Baldwin, Jennifer N; Eichinger, Kate; Finkel, Richard S; Burns, Joshua; McKay, Marnee J

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure

Charcot-Marie-Tooth 功能结局测量的多中心验证

Mandarakas, Melissa R; Eichinger, Katy J; Bray, Paula; Cornett, Kayla M D; Shy, Michael E; Reilly, Mary M; Ramdharry, Gita M; Scherer, Steven S; Pareyson, Davide; Estilow, Timothy; McKay, Marnee J; Herrmann, David N; Burns, Joshua

RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function

先天性肌强直营养不良患儿的RNA剪接异常与身体功能相关

Hartman, Julia M; Ikegami, Kobe; Provenzano, Marina; Bates, Kameron; Butler, Amanda; Jones, Aileen S; Berggren, Kiera N; Dekdebrun, Jeanne; McKay, Marnee J; Baldwin, Jennifer N; Cornett, Kayla M D; Burns, Joshua; Kiefer, Michael; Johnson, Nicholas E; Hale, Melissa A

Variability between Different Hand-Held Dynamometers for Measuring Muscle Strength

不同手持式测力计测量肌肉力量的差异

Du, William; Cornett, Kayla M D; Donlevy, Gabrielle A; Burns, Joshua; McKay, Marnee J

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

体重指数与夏科-马里-图斯病患儿疾病进展的关系

Donlevy, Gabrielle A; Cornett, Kayla M D; Garnett, Sarah P; Shy, Rosemary; Estilow, Timothy; Yum, Sabrina W; Anderson, Kimberly; Pareyson, Davide; Moroni, Isabella; Muntoni, Francesco; Reilly, Mary M; Finkel, Richard S; Herrmann, David N; Eichinger, Katy J; Shy, Michael E; Burns, Joshua; Menezes, Manoj P

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

完善临床试验纳入标准,以优化CMTPedS的标准化反应均值

Cornett, Kayla M D; Menezes, Manoj P; Bray, Paula; Shy, Rosemary R; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Estilow, Tim; Yum, Sabrina W; Bhandari, Trupti; Muntoni, Francesco; Laura, Matilde; Reilly, Mary M; Finkel, Richard S; Eichinger, Katy J; Herrmann, David N; Shy, Michael E; Burns, Joshua

Reliability of the Charcot-Marie-Tooth functional outcome measure

Charcot-Marie-Tooth 功能结果测量的可靠性

Bray, Paula; Cornett, Kayla M D; Estilow, Timothy; Pareyson, Davide; Zuccarino, Riccardo; Skorupinska, Mariola; Pipis, Menelaos; Sowden, Janet E; Scherer, Steven; Reilly, Mary M; Shy, Michael E; Herrmann, David N; Burns, Joshua; Eichinger, Katy J

Natural history of Charcot-Marie-Tooth disease during childhood

儿童期夏科-马里-图斯病的自然史

Cornett, Kayla M D; Menezes, Manoj P; Shy, Rosemary R; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Estilow, Timothy; Yum, Sabrina W; Bhandari, Trupti; Muntoni, Francesco; Laura, Matilde; Reilly, Mary M; Finkel, Richard S; Eichinger, Kate J; Herrmann, David N; Bray, Paula; Halaki, Mark; Shy, Michael E; Burns, Joshua

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

儿童夏科-马里-图斯病的表型变异

Cornett, Kayla M D; Menezes, Manoj P; Bray, Paula; Halaki, Mark; Shy, Rosemary R; Yum, Sabrina W; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laurá, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M; Finkel, Richard S; Sowden, Janet; Eichinger, Katy J; Herrmann, David N; Shy, Michael E; Burns, Joshua