Anna Kuo
National Institutes of Health
6 Papers
7 Citations
Anna Kuo is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Population & Quality of life. The author has an hindex of 3, co-authored 6 publications.
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Papers
Correlation of phenotype with genotype and protein structure in RYR1 -related disorders
Joshua J. Todd,Vatsala Sagar,Tokunbor A. Lawal,Carolyn Allen,Muslima S Razaqyar,Monique Shelton,Irene C Chrismer,Xuemin Zhang,Mary M. Cosgrove,Anna Kuo,Ruhi Vasavada,Minal S. Jain,M. Waite,Dinusha Rajapakse,Jessica W Witherspoon,Graeme Wistow,Katherine G. Meilleur +16 more
TL;DR: Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders and are corroborated genotype-phenotype correlations and identified RyR1 regions that may be especially sensitive to structural modification.
Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Carlos Capella-Peris,Mary M. Cosgrove,Irene C Chrismer,Magalie Emile-Backer,M Sonia Razaqyar,Jeffrey S Elliott,Anna Kuo,Paul Wakim,Katherine G. Meilleur +8 more
TL;DR: Qualitative results showed a comprehensive characterization of HRQoL in this population based on a symptom/patient-centered approach, and given the similar findings across multiple methods and endpoints, the introduction of MMR may be a valuable, complementary approach to clinical trials.
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders.
Anna Kuo,Joshua J. Todd,Jessica W Witherspoon,Tokunbor A. Lawal,Jeffery Elliott,Irene C Chrismer,Monique O Shelton,Muslima S Razaqyar,Minal S. Jain,Ruhi Vasavada,M. Waite,Bart Drinkard,Darren Michael,Alicia Richarte,Carsten G. Bönnemann,Katherine G. Meilleur +15 more
TL;DR: MFI-20 and FACIT-F are valid and reliable tools for assessing RYR1-RD-associated fatigue, a symptom centrally implicated in this rare disorder.
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Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.
Carlos Capella-Peris,Mary M. Cosgrove,Irene C Chrismer,M Sonia Razaqyar,Jeffrey S Elliott,Anna Kuo,Magalie Emile-Backer,Katherine G. Meilleur +7 more
TL;DR: A comprehensive characterization of symptoms in RYR1-RM and how those symptoms influence HRQoL is presented and the introduction of mixed methods may be a valuable way to better understand patient-centered data in rare diseases to support affected individuals in coping with their symptoms.
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Joshua J. Todd,Muslima S Razaqyar,Jessica W Witherspoon,Tokunbor A. Lawal,Ami Mankodi,Irene C Chrismer,Carolyn Allen,Mary D Meyer,Anna Kuo,Monique Shelton,Kim Amburgey,Dmitriy Niyazov,Pierre Fequiere,Carsten G. Bönnemann,James J. Dowling,Katherine G. Meilleur +15 more
TL;DR: This study demonstrates that a genetics-led approach is suitable for the diagnosis of suspected RYR1-RM which can be corroborated through histopathology, muscle MRI and clinical examination.