Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Tokunbor A, Lawal"'
Autor:
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1). RyR1 is the sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-con
Externí odkaz:
https://doaj.org/article/eaee208d483c458182ce30c47fd601c7
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-35 (2020)
Abstract Background Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1
Externí odkaz:
https://doaj.org/article/7a62b41e32a4459eb65dc74103516518
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3d4f37ce32baafb3c372f647ecc21e3
https://doi.org/10.3233/jnd-200549
https://doi.org/10.3233/jnd-200549
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226be56fce93bb64fe237a504d4eaea0
http://link.springer.com/article/10.1186/s13395-020-00243-4
http://link.springer.com/article/10.1186/s13395-020-00243-4
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c1801d7ac4d73f61479046fdde7e36
https://doi.org/10.1097/jnn.0000000000000519
https://doi.org/10.1097/jnn.0000000000000519
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a517eb7fdf1027f33481e225c02f135f
https://doi.org/10.1212/wnl.0000000000008872
https://doi.org/10.1212/wnl.0000000000008872
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dddc64cd18da1d6452f4b5cbdbaf24cb
https://doi.org/10.3233/jnd-180335
https://doi.org/10.3233/jnd-180335
Additional file 1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f2b0e4355c637a3a488f3ef8db28621
