Search Results - Chrismer, Irene C.

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  1. 1
    6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

    6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies by 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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  2. 2
    Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

    Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings by 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
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  3. 3
    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies by 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
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  4. 4
    Correlation of phenotype with genotype and protein structure in RYR1-related disorders

    Correlation of phenotype with genotype and protein structure in RYR1-related disorders by 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
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  5. 5
    Motor function performance in individuals with RYR1‐related myopathies

    Motor function performance in individuals with RYR1‐related myopathies by Witherspoon, Jessica W., Vuillerot, Carole, Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Jain, Minal S., Meilleur, Katherine G.

    Published in Muscle & nerve
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  6. 6
    Development of a proxy‐reported scale to assess motor function in infants and young children with early‐onset neuromuscular disorders

    Development of a proxy‐reported scale to assess motor function in infants and young children with early‐onset neuromuscular disorders by Capella‐Peris, Carlos, Emile‐Backer, Magalie, Shelton, Monique O., Chrismer, Irene C., Cosgrove, Mary M., Bendixen, Roxanna M., Meilleur, Katherine G.

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  7. 7
    Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy

    Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy by Capella-Peris, Carlos, Cosgrove, Mary M., Chrismer, Irene C., Emile-Backer, Magalie, Razaqyar, M. Sonia, Elliott, Jeffrey S., Kuo, Anna, Wakim, Paul G., Meilleur, Katherine G.

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  8. 8
    Correction to: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy

    Correction to: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy by Capella-Peris, Carlos, Cosgrove, Mary M., Chrismer, Irene C., Emile-Backer, Magalie, Razaqyar, M. Sonia, Elliott, Jeffrey S., Kuo, Anna, Wakim, Paul G., Meilleur, Katherine G.

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  9. 9
    Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants’ Experience

    Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants’ Experience by Capella-Peris, Carlos, Cosgrove, Mary M., Chrismer, Irene C., Razaqyar, M. Sonia, Elliott, Jeffrey S., Kuo, Anna, Emile-Backer, Magalie, Meilleur, Katherine G.

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  10. 10
    Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial

    Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial by 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

    Published in EClinicalMedicine
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  11. 11
    Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trialResearch in context

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

    Published in EClinicalMedicine
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  12. 12
    Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

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