Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin

por Knoblauch, Mark, Dagnino-Acosta, Adan, Hamilton, Susan L
Publicado 2013

MyoSight—semi-automated image analysis of skeletal muscle cross sections

por Babcock, Lyle W., Hanna, Amy D., Agha, Nadia H., Hamilton, Susan L.
Publicado 2020

Cell-Free DNA in the Investigation of Miscarriage

por Colley, Emily, Devall, Adam J., Williams, Helen, Hamilton, Susan, Smith, Paul, Morgan, Neil V., Quenby, Siobhan, Coomarasamy, Arri, Allen, Stephanie
Publicado 2020

The mothers, Omega-3 and mental health study

por Mozurkewich, Ellen, Chilimigras, Julie, Klemens, Chelsea, Keeton, Kristie, Allbaugh, Lucy, Hamilton, Susan, Berman, Deborah, Vazquez, Delia, Marcus, Sheila, Djuric, Zora, Vahratian, Anjel
Publicado 2011

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

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of...

por Fitzgibbon, Gregory J, Clayton-Smith, Jill, Banka, Siddharth, Hamilton, Susan J, Needham, Margaret M, Dore, Jonathan K, Miller, Jake T, Pawson, Gareth D, Gaunt, Lorraine
Publicado 2008

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

por Sambuughin, Nyamkhishig, Zvaritch, Elena, Kraeva, Natasha, Sizova, Olga, Sivak, Erica, Dickson, Kelley, Weglinski, Margaret, Capacchione, John, Muldoon, Sheila, Riazi, Sheila, Hamilton, Susan, Brandom, Barbara, MacLennan, David H
Publicado 2014

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

por Endo, Yukari, Groom, Linda, Celik, Alper, Kraeva, Natalia, Lee, Chang Seok, Jung, Sung Yun, Gardner, Lois, Shaw, Marie-Anne, Hamilton, Susan L., Hopkins, Philip M., Dirksen, Robert T., Riazi, Sheila, Dowling, James J.
Publicado 2022

Vitamin D levels and perinatal depressive symptoms in women at risk: a secondary analysis of the mothers, omega-3, and mental health study

por Williams, Jennifer Anne, Romero, Vivian C., Clinton, Chelsea M., Vazquez, Delia M., Marcus, Sheila M., Chilimigras, Julie L., Hamilton, Susan E., Allbaugh, Lucy J., Vahratian, Anjel M., Schrader, Ronald M., Mozurkewich, Ellen L.
Publicado 2016

TRPV1 variants impair intracellular Ca(2+) signaling and may confer susceptibility to malignant hyperthermia

por Vanden Abeele, Fabien, Lotteau, Sabine, Ducreux, Sylvie, Dubois, Charlotte, Monnier, Nicole, Hanna, Amy, Gkika, Dimitra, Romestaing, Caroline, Noyer, Lucile, Flourakis, Matthieu, Tessier, Nolwenn, Al-Mawla, Ribal, Chouabe, Christophe, Lefai, Etienne, Lunardi, Joël, Hamilton, Susan, Fauré, Julien, Van Coppenolle, Fabien, Prevarskaya, Natalia
Publicado 2018

AICAR Prevents Heat Induced Sudden Death in RyR1 Mutant Mice Independent of AMPK Activation

por Lanner, Johanna T., Georgiou, Dimitra K., Dagnino-Acosta, Adan, Ainbinder, Alina, Cheng, Qing, Joshi, Aditya D., Chen, Zanwen, Yarotskyy, Viktor, Oakes, Joshua M., Lee, Chang Seok, Monroe, Tanner O., Santillan, Arturo, Dong, Keke, Goodyear, Laurie, Ismailov, Iskander I., Rodney, George G., Dirksen, Robert T., Hamilton, Susan L.
Publicado 2012

A chemical chaperone improves muscle function in mice with a RyR1 mutation

por Lee, Chang Seok, Hanna, Amy D., Wang, Hui, Dagnino-Acosta, Adan, Joshi, Aditya D., Knoblauch, Mark, Xia, Yan, Georgiou, Dimitra K., Xu, Jianjun, Long, Cheng, Amano, Hisayuki, Reynolds, Corey, Dong, Keke, Martin, John C., Lagor, William R., Rodney, George G., Sahin, Ergun, Sewry, Caroline, Hamilton, Susan L.
Publicado 2017

Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads

por Lee, Chang Seok, Jung, Sung Yun, Yee, Rachel Sue Zhen, Agha, Nadia H., Hong, Jin, Chang, Ting, Babcock, Lyle W., Fleischman, Jorie D., Clayton, Benjamin, Hanna, Amy D., Ward, Christopher S., Lanza, Denise, Hurley, Ayrea E., Zhang, Pumin, Wehrens, Xander H. T., Lagor, William R., Rodney, George G., Hamilton, Susan L.
Publicado 2023

Ca(2+) permeation and/or binding to Ca(V)1.1 fine-tunes skeletal muscle Ca(2+) signaling to sustain muscle function

por Lee, Chang Seok, Dagnino-Acosta, Adan, Yarotskyy, Viktor, Hanna, Amy, Lyfenko, Alla, Knoblauch, Mark, Georgiou, Dimitra K, Poché, Ross A, Swank, Michael W, Long, Cheng, Ismailov, Iskander I, Lanner, Johanna, Tran, Ted, Dong, KeKe, Rodney, George G, Dickinson, Mary E, Beeton, Christine, Zhang, Pumin, Dirksen, Robert T, Hamilton, Susan L
Publicado 2015

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation

por Wang, Hui J., Lee, Chang Seok, Yee, Rachel Sue Zhen, Groom, Linda, Friedman, Inbar, Babcock, Lyle, Georgiou, Dimitra K., Hong, Jin, Hanna, Amy D., Recio, Joseph, Choi, Jong Min, Chang, Ting, Agha, Nadia H., Romero, Jonathan, Sarkar, Poonam, Voermans, Nicol, Gaber, M. Waleed, Jung, Sung Yun, Baker, Matthew L., Pautler, Robia G., Dirksen, Robert T., Riazi, Sheila, Hamilton, Susan L.
Publicado 2020

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

por Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Lewis, Rebecca A, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R
Publicado 2019