Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches von Lawal, Tokunbor A., Todd, Joshua J., Meilleur, Katherine G.

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Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature von Lawal, Tokunbor A, Todd, Joshua J, Witherspoon, Jessica W, Bönnemann, Carsten G, Dowling, James J, Hamilton, Susan L, Meilleur, Katherine G, Dirksen, Robert T

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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019 von Lawal, Tokunbor A, Wires, Emily S, Terry, Nancy L, Dowling, James J, Todd, Joshua J

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Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings von 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

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Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies von 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.

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Correlation of phenotype with genotype and protein structure in RYR1-related disorders von 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.

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Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes von Miller, Ilana M., Lewis, Katie L., Lawal, Tokunbor A., Ng, David, Johnston, Jennifer J., Biesecker, Barbara B., Biesecker, Leslie G.

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Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial von Todd, Joshua J., Lawal, Tokunbor A., Chrismer, Irene C., Kokkinis, Angela, Grunseich, Christopher, Jain, Minal S., Waite, Melissa R., Biancavilla, Victoria, Pocock, Shavonne, Brooks, Kia, Mendoza, Christopher J., Norato, Gina, Cheung, Ken, Riekhof, Willa, Varma, Pooja, Colina-Prisco, Claudia, Emile-Backer, Magalie, Meilleur, Katherine G., Marks, Andrew R., Webb, Yael, Marcantonio, Eugene E., Foley, A. Reghan, Bönnemann, Carsten G., Mohassel, Payam

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Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI von 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.

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Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders von 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.

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Health Behaviors Amongst Unaffected Participants Following Receipt of Variants of Uncertain Significance in Cardiomyopathy-Associated Genes von Miller, Ilana M., Lewis, Katie L., Lawal, Tokunbor A., Ng, David, Johnston, Jennifer J., Biesecker, Barbara B., Biesecker, Leslie G.

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Disclosure of cardiac variants of uncertain significance results in an exome cohort von Lawal, T.A., Lewis, K.L., Johnston, J.J., Heidlebaugh, A.R., Ng, D., Gaston‐Johansson, F.G., Klein, W.M.P., Biesecker, B.B., Biesecker, L.G.

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Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trialResearch in context von 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

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RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022 von O'Connor, Thomas N, van den Bersselaar, Luuk R, Chen, Yu Seby, Nicolau, Stefan, Simon, Brentney, Huseth, Andrew, Todd, Joshua J, Van Petegem, Filip, Sarkozy, Anna, Goldberg, Michael F, Voermans, Nicol C, Dirksen, Robert T

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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings von 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

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Breaking the sound barrier of randomized, controlled trials in congenital myopathies: results of the N-acetylcysteine trial in RYR1-related disorders (S23.004) von Todd, Joshua, Witherspoon, Jessica, Chrismer, Irene, Razaqyar, Sonia, Punjabi, Monal, Elliott, Jeff, Tounkara, Fatoumata, Kuo, Anna, Shelton, Monique, Lawal, Tokunbor, Allen, Carolyn, Cosgrove, Molly, Linton, Melody, Lehky, Tanya, Jain, Minal, Melissa, Waite, Drinkard, Bart, Wakim, Paul, Dowling, James, Bonnemann, Carsten, Emile-Backer, Magalie, Meilleur, Katherine

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