Review of RyR1 pathway and associated pathomechanisms

por Witherspoon, Jessica W., Meilleur, Katherine G.
Publicado 2016

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

por Lawal, Tokunbor A., Todd, Joshua J., Meilleur, Katherine G.
Publicado 2018

Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders

por Hirunagi, Tomoki, Sahashi, Kentaro, Meilleur, Katherine G., Katsuno, Masahisa
Publicado 2022

Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells

por Greer, Lacey K., Meilleur, Katherine G., Harvey, Brandon K., Wires, Emily S.
Publicado 2022

Genetics and genomic medicine in Mali: challenges and future perspectives

por Landouré, Guida, Samassékou, Oumar, Traoré, Mahamadou, Meilleur, Katherine G., Guinto, Cheick Oumar, Burnett, Barrington G., Sumner, Charlotte J., Fischbeck, Kenneth H.
Publicado 2016

Motor function performance in individuals with RYR1‐related myopathies

por Witherspoon, Jessica W., Vuillerot, Carole, Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Jain, Minal S., Meilleur, Katherine G.
Publicado 2019

Use of Fatigue Index as a Measure of Local Muscle Fatigability in Ryanodine Receptor Isoform-1-Related Myopathies

por Witherspoon, Jessica W., Rekant, Julie S., Wakim, Paul G., Vasavada, Ruhi, Waite, Melissa, Chrismer, Irene, Shelton, Monique O., Jain, Minal S., Meilleur, Katherine G.
Publicado 2019

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

por Lawal, Tokunbor A., Todd, Joshua J., Witherspoon, Jessica W., Bönnemann, Carsten G., Dowling, James J., Hamilton, Susan L., Meilleur, Katherine G., Dirksen, Robert T.
Publicado 2020

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

por 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.
Publicado 2018

Rare genetic variants impact muscle strength

por Huang, Yunfeng, Bodnar, Dora, Chen, Chia-Yen, Sanchez-Andrade, Gabriela, Sanderson, Mark, Shi, Jun, Meilleur, Katherine G., Hurles, Matthew E., Gerety, Sebastian S., Tsai, Ellen A., Runz, Heiko
Publicado 2023

Transferability and Fine Mapping of genome-wide associated loci for lipids in African Americans

por Adeyemo, Adebowale, Bentley, Amy R, Meilleur, Katherine G, Doumatey, Ayo P, Chen, Guanjie, Zhou, Jie, Shriner, Daniel, Huang, Hanxia, Herbert, Alan, Gerry, Norman P, Christman, Michael F, Rotimi, Charles N
Publicado 2012

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

por 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.
Publicado 2021

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

por 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.
Publicado 2018

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 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 2020

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

por Sangare, Modibo, Dicko, Ilo, Guinto, Cheick Oumar, Sissoko, Adama, Dembele, Kekouta, Coulibaly, Youlouza, Coulibaly, Siaka Y., Landoure, Guida, Diallo, Abdallah, Dolo, Mamadou, Dolo, Housseini, Maiga, Boubacar, Traore, Moussa, Karembe, Mamadou, Traore, Kadiatou, Toure, Amadou, Sylla, Mariam, Togora, Arouna, Coulibaly, Souleymane, Traore, Sékou Fantamady, Hendrickson, Brant, Bricceno, Katherine, Schindler, Alice B., Kokkinis, Angela, Meilleur, Katherine G., Sangho, Hammadoun Ali, Diakite, Brehima, Kassogue, Yaya, Coulibaly, Yaya Ibrahim, Burnett, Barrington, Maiga, Youssoufa, Doumbia, Seydou, Fischbeck, Kenneth H.
Publicado 2016

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

por Foley, A. Reghan, Zou, Yaqun, Dunford, James E., Rooney, Jachinta, Chandra, Goutam, Xiong, Hui, Straub, Volker, Voit, Thomas, Romero, Norma, Donkervoort, Sandra, Hu, Ying, Markello, Thomas, Horn, Adam, Qebibo, Leila, Dastgir, Jahannaz, Meilleur, Katherine G., Finkel, Richard S., Fan, Yanbin, Mamchaoui, Kamel, Duguez, Stephanie, Nelson, Isabelle, Laporte, Jocelyn, Santi, Mariarita, Malfatti, Edoardo, Maisonobe, Thierry, Touraine, Philippe, Hirano, Michio, Hughes, Imelda, Bushby, Kate, Oppermann, Udo, Böhm, Johann, Jaiswal, Jyoti K., Stojkovic, Tanya, Bönnemann, Carsten G.
Publicado 2020

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

por Sangaré, Modibo, Hendrickson, Brant, Sango, Hammadoun Ali, Chen, Kelian, Nofziger, Jonathan, Amara, Abdelbasset, Dutra, Amalia, Schindler, Alice B., Guindo, Aldiouma, Traoré, Mahamadou, Harmison, George, Pak, Evgenia, Yaro, Fatoumata N'Go, Bricceno, Katherine, Grunseich, Christopher, Chen, Guibin, Boehm, Manfred, Zukosky, Kristen, Bocoum, Nouhoum, Meilleur, Katherine G., Daou, Fatoumata, Bagayogo, Koumba, Coulibaly, Yaya Ibrahim, Diakité, Mahamadou, Fay, Michael P., Lee, Hee‐Suk, Saad, Ali, Gribaa, Moez, Singleton, Andrew B., Maiga, Youssoufa, Auh, Sungyoung, Landouré, Guida, Fairhurst, Rick M., Burnett, Barrington G., Scholl, Thomas, Fischbeck, Kenneth H.
Publicado 2014