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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C. 分享 收藏
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Muscle Pathology in Dystrophic Rats and Zebrafish Is Unresponsive to Taurine Treatment, Compared to the mdx Mouse Model for Duchenne Muscular Dystrophy 与杜氏肌营养不良的mdx小鼠模型相比,营养不良大鼠和斑马鱼的肌肉病理学对牛磺酸治疗无反应 Terrill, Jessica R.; Huchet, Corinne; Le Guiner, Caroline; Lafoux, Aude; Caudal, Dorian; Tulangekar, Ankita; Bryson-Richardson, Robert J.; Sztal, Tamar E.; Grounds, Miranda D.; Arthur, Peter G. 分享 收藏
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Metformin rescues muscle function in BAG3 myofibrillar myopathy models Ruparelia, Avnika A.; McKaige, Emily A.; Williams, Caitlin; Schulze, Keith E.; Fuchs, Margit; Oorschot, Viola; Lacene, Emmanuelle; Meregalli, Mirella; Lee, Clara; Serrano, Rita J.; Baxter, Emily C.; Monro, Keyne; Torrente, Yvan; Ramm, Georg; Stojkovic, Tanya; Lavoie, Josee N.; Bryson-Richardson, Robert J. 分享 收藏
KBTBD13 is an actin-binding protein that modulates muscle kinetics de Winter, Josine M.; Molenaar, Joery P.; Yuen, Michaela; van der Pijl, Robbert; Shen, Shengyi; Conijn, Stefan; van de Locht, Martijn; Willigenburg, Menne; Bogaards, Sylvia J. P.; van Kleef, Esmee S. B.; Lassche, Saskia; Persson, Malin; Rassier, Dilson E.; Sztal, Tamar E.; Ruparelia, Avnika A.; Oorschot, Viola; Ramm, Georg; Hall, Thomas E.; Xiong, Zherui; Johnson, Christopher N.; Li, Frank; Kiss, Balazs; Lozano-Vidal, Noelia; Boon, Reinier A.; Marabita, Manuela; Nogara, Leonardo; Blaauw, Bert; Rodenburg, Richard J.; Kusters, Benno; Doorduin, Jonne; Beggs, Alan H.; Granzier, Henk; Campbell, Ken; Ma, Weikang; Irving, Thomas; Malfatti, Edoardo; Romero, Norma B.; Bryson-Richardson, Robert J.; van Engelen, Baziel G. M.; Voermans, Nicol C.; Ottenheijm, Coen A. C. 分享 收藏
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L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy Messineo, Adriana M.; Gineste, Charlotte; Sztal, Tamar E.; McNamara, Elyshia L.; Vilmen, Christophe; Ogier, Augustin C.; Hahne, Dorothee; Bendahan, David; Laing, Nigel G.; Bryson-Richardson, Robert J.; Gondin, Julien; Nowak, Kristen J. 分享 收藏
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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization 氧化还原酶PYROXD1的变体会导致早发性肌病,并伴有内在化的核和肌原纤维紊乱 O'Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Tvlyriam; Donkervoort, Sandra; Neto, Osorio Abath; Sutton, Roger Bryan; Ilkovski, Biljana; Romero, Norma Beatriz; Stojkovic, Tanya; Dastgir, Jahannaz; Waddell, Leigh B.; Boland, Anne; Hu, Ying; Williams, Caitlin; Ruparelia, Avnika A.; Maisonobe, Thierry; Peduto, Anthony J.; Reddel, Stephen W.; Lek, Monkol; Tukiainen, Tam; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-Francois; Ing, Viola Oorschot; Ramm, Georg; Ardicli, Didem; Nowak, Kristen J.; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; North, Kathryn N.; MacArthur, Daniel G.; Friant, Sylvie; Clarke, Nigel F.; Bryson-Richardson, Robert J.; Bonnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T. 分享 收藏
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