Validation of manual muscle testing and a subset of eight muscles for adult and juvenile idiopathic inflammatory myopathies von Rider, Lisa G., Koziol, Deloris, Giannini, Edward H., Jain, Minal S., Smith, Michaele R., Whitney‐Mahoney, Kristi, Feldman, Brian M., Wright, Susan J., Lindsley, Carol B., Pachman, Lauren M., Villalba, Maria L., Lovell, Daniel J., Bowyer, Suzanne L., Plotz, Paul H., Miller, Frederick W., Hicks, Jeanne E.

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6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies von Witherspoon, Jessica W, Vasavada, Ruhi P, Waite, Melissa R, Shelton, Monique, Chrismer, Irene C, Wakim, Paul G, Jain, Minal S, Bönnemann, Carsten G, Meilleur, Katherine G

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Use of Fatigue Index as a Measure of Local Muscle Fatigability in Ryanodine Receptor Isoform-1-Related Myopathies von Witherspoon, Jessica W, Rekant, Julie S, Wakim, Paul G, Vasavada, Ruhi, Waite, Melissa, Chrismer, Irene, Shelton, Monique O, Jain, Minal S, Meilleur, Katherine G

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A Cross-Sectional Study of Nemaline Myopathy von Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

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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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Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies von Jain, Minal S, Meilleur, Katherine, Kim, Eunhee, Norato, Gina, Waite, Melissa, Nelson, Leslie, McGuire, Michelle, Duong, Tina, Keller, Katherine, Lott, Donovan J, Glanzman, Allan, Rose, Kristy, Main, Marion, Fiorini, Courtney, Chrismer, Irene, Linton, Melody, Punjabi, Monal, Elliott, Jeffrey, Tounkara, Fatoumata, Vasavada, Ruhi, Logaraj, Ranjani, Winkert, Jocelyn, Donkervoort, Sandra, Leach, Meganne, Dastgir, Jahannaz, Hynan, Linda, Nichols, Carmel, Hartnett, Elizabeth, Averion, Gilberto M, Collins, James C, Kim, Eunice S, Kokkinis, Angela, Schindler, Alice, Zukosky, Kristen, Fee, Robert, Hinton, Veronica, Mohassel, Payam, Bharucha-Goebel, Diana, Vuillerot, Carole, McGraw, Peter, Barton, Mark, Fontana, Joseph, Rutkowski, Anne, Foley, A Reghan, Bönnemann, Carsten G

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Motor function performance in individuals with RYR1‐related myopathies von Witherspoon, Jessica W., Vuillerot, Carole, Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Jain, Minal S., 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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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome von Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.

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Electrical impedance myography in individuals with collagen 6 and laminin α‐2 congenital muscular dystrophy: a cross‐sectional and 2‐year analysis von Nichols, Carmel, Jain, Minal S., Meilleur, Katherine G., Wu, Tianxia, Collins, James, Waite, Melissa R., Dastgir, Jahannaz, Salman, Anam, Donkervoort, Sandra, Duong, Tina, Keller, Katherine, Leach, Meganne E., Lott, Donovan J., McGuire, Michelle N., Nelson, Leslie, Rutkowski, Anne, Vuillerot, Carole, Bönnemann, Carsten G., Lehky, Tanya J.

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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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Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy von Foley, A Reghan, Yun, Pomi, Leach, Meganne E, Neuhaus, Sarah B, Averion, Gilberto V, Hu, Ying, Hayes, Leslie H, Donkervoort, Sandra, Jain, Minal S, Waite, Melissa, Parks, Rebecca, Bharucha-Goebel, Diana X, Mayer, Oscar H, Zou, Yaqun, Fink, Margaret, DeCoster, Jameice, Mendoza, Christopher, Arévalo, Cynthia, Hausmann, Rudolf, Petraki, Diana, Cheung, Ken, Bönnemann, Carsten G

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Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies von Meilleur, Katherine G, Jain, Minal S, Hynan, Linda S, Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M, Main, Marion, Rose, Kristy, Duong, Tina, Bendixen, Roxanna, Linton, Melody M, Arveson, Irene C, Nichols, Carmel, Yang, Kelly, Fischbeck, Kenneth H, Wagner, Kathryn R, North, Kathryn, Mankodi, Ami, Grunseich, Christopher, Hartnett, Elizabeth J, Smith, Michaele, Donkervoort, Sandra, Schindler, Alice, Kokkinis, Angela, Leach, Meganne, Foley, A. Reghan, Collins, James, Muntoni, Francesco, Rutkowski, Anne, Bönnemann, Carsten G

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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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Novel assessment tools to evaluate clinical and laboratory responses in a subset of patients enrolled in the Rituximab in Myositis trial von Rider, Lisa G, Yip, Adrienne L, Horkayne-Szakaly, Iren, Volochayev, Rita, Shrader, Joseph A, Turner, Maria L, Kong, Heidi H, Jain, Minal S, Jansen, Anna V, Oddis, Chester V, Fleisher, Thomas A, Miller, Frederick W

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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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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome von Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.

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A Cross-Sectional Study of Nemaline Myopathy von Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

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Results From a Three-Year Pilot Study of Clinical Outcome Measures in Congenital Muscular Dystrophy von Meilleur, Katherine G., Jain, Minal S., Bendixen, Roxanna

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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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