Development of a proxy-reported scale to assess motor function in infants and young children with early-onset neuromuscular disorders

por CAPELLA-PERIS, Carlos, EMILE-BACKER, Magalie, SHELTON, Monique O., CHRISMER, Irene C., COSGROVE, Mary M., BENDIXEN, Roxanna M., MEILLEUR, Katherine G.
Publicado en J Adv Nurs (2020)

Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants’ experience

por Capella-Peris, Carlos, Cosgrove, Mary M., Chrismer, Irene C., Razaqyar, M. Sonia, Elliott, Jeffrey S., Kuo, Anna, Emile-Backer, Magalie, Meilleur, Katherine G.
Publicado en Patient (2020)

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

por 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.
Publicado en Qual Life Res (2020)

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

por 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.
Publicado en J Neurol (2018)

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

por 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.
Publicado en Neurology (2020)