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Animal models of antimuscle-specific kinase myasthenia.
Richman DP, Nishi K, Ferns MJ, Schnier J, Pytel P, Maselli RA, Agius MA. Richman DP, et al. Among authors: pytel p. Ann N Y Acad Sci. 2012 Dec;1274:140-7. doi: 10.1111/j.1749-6632.2012.06782.x. Ann N Y Acad Sci. 2012. PMID: 23252909 Free PMC article.
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Among authors: pytel p. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544784 Free PMC article.
Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome.
Zhu H, Grajales-Reyes GE, Alicea-Vázquez V, Grajales-Reyes JG, Robinson K, Pytel P, Báez-Pagán CA, Lasalde-Dominicci JA, Gomez CM. Zhu H, et al. Among authors: pytel p. Exp Neurol. 2015 Aug;270:88-94. doi: 10.1016/j.expneurol.2014.10.008. Epub 2014 Oct 23. Exp Neurol. 2015. PMID: 25448156 Free PMC article.
137 results