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Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function.
Girgis CM, Cha KM, So B, Tsang M, Chen J, Houweling PJ, Schindeler A, Stokes R, Swarbrick MM, Evesson FJ, Cooper ST, Gunton JE. Girgis CM, et al. Among authors: schindeler a. J Cachexia Sarcopenia Muscle. 2019 Dec;10(6):1228-1240. doi: 10.1002/jcsm.12460. Epub 2019 Jun 21. J Cachexia Sarcopenia Muscle. 2019. PMID: 31225722 Free PMC article.
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.
Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, Center JR, Prince RL, Wilson SG, Zhu K, Little DG, North KN. Yang N, et al. Among authors: schindeler a. Bone. 2011 Oct;49(4):790-8. doi: 10.1016/j.bone.2011.07.009. Epub 2011 Jul 19. Bone. 2011. PMID: 21784188
NF1 is a critical regulator of muscle development and metabolism.
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. Sullivan K, et al. Among authors: schindeler a. Hum Mol Genet. 2014 Mar 1;23(5):1250-9. doi: 10.1093/hmg/ddt515. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163128 Free PMC article.
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Summers MA, Rupasinghe T, Vasiljevski ER, Evesson FJ, Mikulec K, Peacock L, Quinlan KG, Cooper ST, Roessner U, Stevenson DA, Little DG, Schindeler A. Summers MA, et al. Among authors: schindeler a. Hum Mol Genet. 2018 Feb 15;27(4):577-588. doi: 10.1093/hmg/ddx423. Hum Mol Genet. 2018. PMID: 29228356
Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
Summers MA, Quinlan KG, Payne JM, Little DG, North KN, Schindeler A. Summers MA, et al. Among authors: schindeler a. J Musculoskelet Neuronal Interact. 2015 Jun;15(2):161-70. J Musculoskelet Neuronal Interact. 2015. PMID: 26032208 Free PMC article. Review.
124 results