Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Muslima S Razaqyar"'
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:
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
Autor:
Joshua J, Todd, Tokunbor A, Lawal, Jessica W, Witherspoon, Irene C, Chrismer, Muslima S, Razaqyar, Monal, Punjabi, Jeffrey S, Elliott, Fatoumata, Tounkara, Anna, Kuo, Monique O, Shelton, Carolyn, Allen, Mary M, Cosgrove, Melody, Linton, Darren, Michael, Minal S, Jain, Melissa, Waite, Bart, Drinkard, Paul G, Wakim, James J, Dowling, Carsten G, Bönnemann, Magalie, Emile-Backer, Katherine G, Meilleur
Publikováno v:
Neurology
Objective To investigate the efficacy of N-acetylcysteine (NAC) for decreasing elevated oxidative stress and increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM). Methods In this 6-month natural history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f554a8d0097a859e6332e7c1f82ce01a
https://pubmed.ncbi.nlm.nih.gov/31941795
https://pubmed.ncbi.nlm.nih.gov/31941795
Autor:
Irene C Chrismer, Anna Kuo, Katherine G. Meilleur, Mary M. Cosgrove, Monique Shelton, M. Waite, Minal S. Jain, Tokunbor A. Lawal, Xuemin Zhang, Carolyn Allen, Dinusha Rajapakse, Joshua J. Todd, Jessica W Witherspoon, Vatsala Sagar, Graeme Wistow, Ruhi Vasavada, Muslima S Razaqyar
Publikováno v:
Journal of Neurology
Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders. Presentation during infancy is typical and ranges from delayed motor milestones and proximal muscle weakness to severe respiratory impair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e348fe4ef259eb55cf898420c50c3cb
https://pubmed.ncbi.nlm.nih.gov/30155738
https://pubmed.ncbi.nlm.nih.gov/30155738
Autor:
Christina S. Barr, Elizabeth A. Simpson, Stephen J. Suomi, Juan F. Lopez, Carlos A. Driscoll, Muslima S Razaqyar, Zhifeng Zhou, Stephen G. Lindell, Robert C. Thompson, Melanie L. Schwandt, J. Dee Higley, Markus Heilig, Maggie Baker, Wolfgang H. Sommer, Qiaoping Yuan, Pier Francesco Ferrari, Ravi Kumar Sindhu, Isaac Miller-Crews, Annika Paukner, David Goldman
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Epigenetically programmed stress adaptation may be a conduit for informing offspring of environmental challenge. We employed ChIP-sequencing to examine effects of early environment on epigenetic regulation using hippocampal samples from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285e91ec94cadb58ed4a53d8b91ea72a
https://irep.ntu.ac.uk/id/eprint/35690/1/13243_a1305_Paukner.pdf
https://irep.ntu.ac.uk/id/eprint/35690/1/13243_a1305_Paukner.pdf
