Randomized controlled trial of N -acetylcysteine therapy for RYR1 -related myopathies
Todd, Joshua J, Lawal, Tokunbor A, Witherspoon, Jessica W, Chrismer, Irene C, Razaqyar, Muslima S, Punjabi, Monal, Elliott, Jeffrey S, Tounkara, Fatoumata, Kuo, Anna, Shelton, Monique O, Allen, Carolyn, Cosgrove, Mary M, Linton, Melody, Michael, Darren, Jain, Minal S, Waite, Melissa, Drinkard, Bart, Wakim, Paul G, Dowling, James J, Bönnemann, Carsten G, Emile-Backer, Magalie, Meilleur, Katherine G
Published in Neurology (31.03.2020)
Published in Neurology (31.03.2020)
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Journal Article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Kushnir, Alexander, Todd, Joshua J., Witherspoon, Jessica W., Yuan, Qi, Reiken, Steven, Lin, Harvey, Munce, Ross H., Wajsberg, Benjamin, Melville, Zephan, Clarke, Oliver B., Wedderburn-Pugh, Kaylee, Wronska, Anetta, Razaqyar, Muslima S., Chrismer, Irene C., Shelton, Monique O., Mankodi, Ami, Grunseich, Christopher, Tarnopolsky, Mark A., Tanji, Kurenai, Hirano, Michio, Riazi, Sheila, Kraeva, Natalia, Voermans, Nicol C., Gruber, Angela, Allen, Carolyn, Meilleur, Katherine G., Marks, Andrew R.
Published in Acta neuropathologica (01.06.2020)
Published in Acta neuropathologica (01.06.2020)
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Journal Article
Early rearing history influences oxytocin receptor epigenetic regulation in rhesus macaques
Baker, Maggie, Lindell, Stephen G., Driscoll, Carlos A., Zhou, Zhifeng, Yuan, Qiaoping, Schwandt, Melanie L., Miller-Crews, Isaac, Simpson, Elizabeth A., Paukner, Annika, Ferrari, Pier Francesco, Sindhu, Ravi Kumar, Razaqyar, Muslima, Sommer, Wolfgang H., Lopez, Juan F., Thompson, Robert C., Goldman, David, Heilig, Markus, Higley, J. Dee, Suomi, Stephen J., Barr, Christina S.
Published in Proceedings of the National Academy of Sciences - PNAS (31.10.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (31.10.2017)
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Journal Article
Correlation of phenotype with genotype and protein structure in RYR1-related disorders
Todd, Joshua J., Sagar, Vatsala, Lawal, Tokunbor A., Allen, Carolyn, Razaqyar, Muslima S., Shelton, Monique S., Chrismer, Irene C., Zhang, Xuemin, Cosgrove, Mary M., Kuo, Anna, Vasavada, Ruhi, Jain, Minal S., Waite, Melissa, Rajapakse, Dinusha, Witherspoon, Jessica W., Wistow, Graeme, Meilleur, Katherine G.
Published in Journal of neurology (01.11.2018)
Published in Journal of neurology (01.11.2018)
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Journal Article
Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings
Todd, Joshua J, Razaqyar, Muslima S, Witherspoon, Jessica W, Lawal, Tokunbor A, Mankodi, Ami, Chrismer, Irene C, Allen, Carolyn, Meyer, Mary D, Kuo, Anna, Shelton, Monique S, Amburgey, Kim, Niyazov, Dmitriy, Fequiere, Pierre, Bönnemann, Carsten G, Dowling, James J, Meilleur, Katherine G
Published in Frontiers in neurology (05.03.2018)
Published in Frontiers in neurology (05.03.2018)
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Journal Article
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI
Lawal, Tokunbor A., Patankar, Aneesh, Todd, Joshua J., Razaqyar, Muslima S., Chrismer, Irene C., Zhang, Xuemin, Waite, Melissa R., Jain, Minal S., Emile-Backer, Magalie, Witherspoon, Jessica W., Liu, Chia-Ying, Grunseich, Christopher, Meilleur, Katherine G.
Published in Journal of neuromuscular diseases (01.01.2021)
Published in Journal of neuromuscular diseases (01.01.2021)
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Journal Article
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders
Kuo, Anna, Todd, Joshua J, Witherspoon, Jessica W, Lawal, Tokunbor A, Elliott, Jeffery, Chrismer, Irene C, Shelton, Monique O, Razaqyar, Muslima S, Jain, Minal S, Vasavada, Ruhi, Waite, Melissa, Drinkard, Bart, Michael, Darren, Richarte, Alicia, Bönnemann, Carsten G, Meilleur, Katherine G
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Journal Article
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings
Todd, Joshua J, Razaqyar, Muslima S, Witherspoon, Jessica W, Lawal, Tokunbor A, Mankodi, Ami, Chrismer, Irene C, Allen, Carolyn, Meyer, Mary D, Kuo, Anna, Shelton, Monique S, Amburgey, Kim, Niyazov, Dmitriy, Fequiere, Pierre, Bönnemann, Carsten G, Dowling, James J, Meilleur, Katherine G
Published in Frontiers in neurology (01.01.2018)
Published in Frontiers in neurology (01.01.2018)
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