Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

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Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement von Webborn, Nick, Williams, Alun, McNamee, Mike, Bouchard, Claude, Pitsiladis, Yannis, Ahmetov, Ildus, Ashley, Euan, Byrne, Nuala, Camporesi, Silvia, Collins, Malcolm, Dijkstra, Paul, Eynon, Nir, Fuku, Noriyuki, Garton, Fleur C, Hoppe, Nils, Holm, Søren, Kaye, Jane, Klissouras, Vassilis, Lucia, Alejandro, Maase, Kamiel, Moran, Colin, North, Kathryn N, Pigozzi, Fabio, Wang, Guan

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Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle von Thomas, Kristen C, Zheng, Xi Fiona, Garces Suarez, Francia, Raftery, Joanna M, Quinlan, Kate G R, Yang, Nan, North, Kathryn N, Houweling, Peter J

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan von Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco

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Distinctive patterns of microRNA expression in primary muscular disorders von Eisenberg, Iris, Eran, Alal, Nishino, Ichizo, Moggio, Maurizio, Lamperti, Costanza, Amato, Anthony A, Lidov, Hart G, Kang, Peter B, North, Kathryn N, Mitrani-Rosenbaum, Stella, Flanigan, Kevin M, Neely, Lori A, Whitney, Duncan, Beggs, Alan H, Kohane, Isaac S, Kunkel, Louis M

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Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3) von Knights, Alexander J., Vohralik, Emily J., Houweling, Peter J., Stout, Elizabeth S., Norton, Laura J., Alexopoulos, Stephanie J., Yik, Jinfen. J., Mat Jusoh, Hanapi, Olzomer, Ellen M., Bell-Anderson, Kim S., North, Kathryn N., Hoehn, Kyle L., Crossley, Merlin, Quinlan, Kate G. R.

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Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair von Lek, Angela, Evesson, Frances J, Lemckert, Frances A, Redpath, Gregory M I, Lueders, Ann-Katrin, Turnbull, Lynne, Whitchurch, Cynthia B, North, Kathryn N, Cooper, Sandra T

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The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance von GARTON, FLEUR C, NORTH, KATHRYN N

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Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair von Lek, Angela, Evesson, Frances J., Sutton, R. Bryan, North, Kathryn N., Cooper, Sandra T.

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No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes von Papadimitriou, Ioannis D, Lockey, Sarah J, Voisin, Sarah, Herbert, Adam J, Garton, Fleur, Houweling, Peter J, Cieszczyk, Pawel, Maciejewska-Skrendo, Agnieszka, Sawczuk, Marek, Massidda, Myosotis, Calò, Carla Maria, Astratenkova, Irina V, Kouvatsi, Anastasia, Druzhevskaya, Anastasiya M, Jacques, Macsue, Ahmetov, Ildus I, Stebbings, Georgina K, Heffernan, Shane, Day, Stephen H, Erskine, Robert, Pedlar, Charles, Kipps, Courtney, North, Kathryn N, Williams, Alun G, Eynon, Nir

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MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes von Bastiani, Michele, Liu, Libin, Hill, Michelle M, Jedrychowski, Mark P, Nixon, Susan J, Lo, Harriet P, Abankwa, Daniel, Luetterforst, Robert, Fernandez-Rojo, Manuel, Breen, Michael R, Gygi, Steven P, Vinten, Jorgen, Walser, Piers J, North, Kathryn N, Hancock, John F, Pilch, Paul F, Parton, Robert G

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Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor von Lemckert, Frances A, Bournazos, Adam, Eckert, Daniel M, Kenzler, Manuel, Hawkes, Joanne M, Butler, Tanya L, Ceely, Bradley, North, Kathryn N, Winlaw, David S, Egan, Jonathan R, Cooper, Sandra T

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Lifespan Analysis of Dystrophic mdx Fast-Twitch Muscle Morphology and Its Impact on Contractile Function von Kiriaev, Leonit, Kueh, Sindy, Morley, John W., North, Kathryn N., Houweling, Peter J., Head, Stewart I.

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Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing von Houweling, Peter J., Crossman, Vanessa, Tiong, Chrystal F., Coles, Chantal A., Taylor, Rhonda L., Clayton, Joshua S., Graham, Alison, Vlahos, Katerina, Howden, Sara E, North, Kathryn N.

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Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans von Hook, Jeff W, Seto, Jane T, Gunning, Peter W, MacArthur, Daniel G, Quinlan, Kate G, Huttley, Gavin A, Lemckert, Frances A, Hardeman, Edna C, Edwards, Michael R, Berman, Yemima, Easteal, Simon, Kee, Anthony J, North, Kathryn N, Yang, Nan, Raftery, Joanna M

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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins von Lek, Angela, Lek, Monkol, North, Kathryn N, Cooper, Sandra T

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion von Clarke, Nigel F, Waddell, Leigh B, Cooper, Sandra T, Perry, Margaret, Smith, Robert L.L, Kornberg, Andrew J, Muntoni, Francesco, Lillis, Suzanne, Straub, Volker, Bushby, Kate, Guglieri, Michela, King, Mary D, Farrell, Michael A, Marty, Isabelle, Lunardi, Joel, Monnier, Nicole, North, Kathryn N

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TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy von Ghaoui, Roula, Benavides, Tatiana, Lek, Monkol, Waddell, Leigh B., Kaur, Simranpreet, North, Kathryn N., MacArthur, Daniel G., Clarke, Nigel F., Cooper, Sandra T.

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Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution von Head, Stewart I, Chan, Stephen, Houweling, Peter J, Quinlan, Kate G R, Murphy, Robyn, Wagner, Sören, Friedrich, Oliver, North, Kathryn N

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Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers von Wang, Guan, Mikami, Eri, Chiu, Li-Ling, DE Perini, Alessandra, Deason, Michael, Fuku, Noriyuki, Miyachi, Motohiko, Kaneoka, Koji, Murakami, Haruka, Tanaka, Masashi, Hsieh, Ling-Ling, Hsieh, Sandy S, Caporossi, Daniela, Pigozzi, Fabio, Hilley, Alan, Lee, Rob, Galloway, Stuart D R, Gulbin, Jason, Rogozkin, Viktor A, Ahmetov, Ildus I, Yang, Nan, North, Kathryn N, Ploutarhos, Saraslanidis, Montgomery, Hugh E, Bailey, Mark E S, Pitsiladis, Yannis P

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