Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jessica W. Witherspoon"'
Autor:
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-16 (2020)
Abstract The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to
Externí odkaz:
https://doaj.org/article/94e0bf7a004048e1962b07df5b775e8b
Autor:
Jessica W. Witherspoon, Julie S. Rekant, Paul G. Wakim, Ruhi Vasavada, Melissa Waite, Irene Chrismer, Monique O. Shelton, Minal S. Jain, Katherine G. Meilleur
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Introduction: Individuals affected with ryanodine receptor isoform-1-related myopathies (RYR1-RM) commonly experience fatigability in the quadriceps, which may limit physical function and potentially diminish quality of life. Fatigability, in RYR1-RM
Externí odkaz:
https://doaj.org/article/2332426aca8e4a13a65f55db0ad0f50c
Autor:
Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the ryanodine receptor
Externí odkaz:
https://doaj.org/article/35dd110ffd0f450fb05f58c70a6a3ac6
Autor:
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 S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, Katherine G. Meilleur
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint co
Externí odkaz:
https://doaj.org/article/00dd881aa9694ede8ed4875c6ede7607
Autor:
Christopher Grunseich, M. Waite, Joshua J. Todd, Aneesh Patankar, Jessica W Witherspoon, Katherine G. Meilleur, Irene C Chrismer, Xuemin Zhang, Muslima S Razaqyar, Tokunbor A. Lawal, Minal Jain, Magalie Emile-Backer, Chia-Ying Liu
Publikováno v:
Journal of Neuromuscular Diseases
Background: Ryanodine receptor 1-related myopathy (RYR1-RM) can present with a selective pattern and gradient of intramuscular fatty infiltration (IMFI) on magnetic resonance imaging (MRI). Objective: To demonstrate an automated protocol for quantifi
Autor:
James J. Dowling, Robert T. Dirksen, Jessica W Witherspoon, Joshua J. Todd, Katherine G. Meilleur, Tokunbor A. Lawal, Susan L. Hamilton, Carsten G. Bönnemann
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-16 (2020)
Skeletal Muscle
Skeletal Muscle
TheRYR1gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 andRYR1variations that impair calcium homeostasis and increase susceptibility to malignant hyp
Autor:
Carsten G. Bönnemann, Tokunbor A. Lawal, Fatoumata Tounkara, Katherine G. Meilleur, Roxanna M. Bendixen, M. Waite, John P Collins, Jeffrey S Elliott, Irene C Chrismer, Jessica W Witherspoon, Melody M. Linton, Minal Jain, Carmel Nichols, Megan Andres, Carole Vuillerot, Joshua J. Todd
Publikováno v:
Journal of Neuroscience Nursing. 52:172-178
Background When tested in a controlled clinic environment, individuals with neuromuscular-related symptoms may complete motor tasks within normal predicted ranges. However, measuring activity at home may better reflect typical motor performance. The
Autor:
Jeffrey S Elliott, Darren Michael, Irene C Chrismer, Fatoumata Tounkara, Monique O Shelton, Carolyn Allen, Minal Jain, Joshua J. Todd, Carsten G. Bönnemann, Muslima S Razaqyar, Mary M. Cosgrove, Magalie Emile-Backer, M. Waite, Bart Drinkard, Tokunbor A. Lawal, Anna Kuo, James J. Dowling, Monal Punjabi, Katherine G. Meilleur, Jessica W Witherspoon, Melody M. Linton, Paul Wakim
Publikováno v:
Neurology. 94:e1434-e1444
ObjectiveTo investigate the efficacy ofN-acetylcysteine (NAC) for decreasing elevated oxidative stress and increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM).MethodsIn this 6-month natural history asse
Autor:
Ruhi Vasavada, Katherine G. Meilleur, Minal S. Jain, Jeffery Elliott, Bart Drinkard, M. Waite, Tokunbor A. Lawal, Jessica W Witherspoon, Carsten G. Bönnemann, Monique O Shelton, Joshua J. Todd, Muslima S Razaqyar, Irene C Chrismer, Darren Michael, Anna Kuo, Alicia Richarte
Publikováno v:
Journal of Neuromuscular Diseases. 6:133-141
RYR1-related disorders (RYR1-RD), are a spectrum of genetic neuromuscular disorders. Affected individuals frequently experience fatigue yet appropriate tools to assess RYR1-RD-associated fatigue remain underdeveloped.This study assessed the reliabili
Autor:
M. Jain, J. Collins, M. Waite, R.H. Logaraj, Jessica W Witherspoon, Ruhi Vasavada, C.Y. Shieh, Katherine G. Meilleur, Carsten G. Bönnemann
Publikováno v:
European Journal of Paediatric Neurology. 23:165-170
Functional tests such as Motor Function Measure-32 (MFM-32), supine to stand, ascend/descend stairs permit the assessment of task-specific motor function in neuromuscular disease (NMD). The 6-min walk test (6MWT), though functional, is primarily used