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

Volltext

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.

Volltext

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

Volltext

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.

Volltext

GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome von Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Bohm, J, Jaiswal, JK, Stojkovic, T, Bonnemann, CG

Volltext bestellen