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2022 4
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Signs and Symptoms in Congenital Myopathies.
Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J. Gonorazky HD, et al. Among authors: volpatti jr. Semin Pediatr Neurol. 2019 Apr;29:3-11. doi: 10.1016/j.spen.2019.01.002. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060723 Review.
Natural history of a mouse model of X-linked myotubular myopathy.
Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky HD, Celik A, Liang Y, Onofre-Oliveira P, Dowling JJ. Sarikaya E, et al. Among authors: volpatti j. Dis Model Mech. 2022 Jul 1;15(7):dmm049342. doi: 10.1242/dmm.049342. Epub 2022 Jul 25. Dis Model Mech. 2022. PMID: 35694952 Free PMC article.
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Volpatti JR, Ghahramani-Seno MM, Mansat M, Sabha N, Sarikaya E, Goodman SJ, Chater-Diehl E, Celik A, Pannia E, Froment C, Combes-Soia L, Maani N, Yuki KE, Chicanne G, Uusküla-Reimand L, Monis S, Alvi SA, Genetti CA, Payrastre B, Beggs AH, Bonnemann CG, Muntoni F, Wilson MD, Weksberg R, Viaud J, Dowling JJ. Volpatti JR, et al. Acta Neuropathol. 2022 Sep;144(3):537-563. doi: 10.1007/s00401-022-02468-7. Epub 2022 Jul 17. Acta Neuropathol. 2022. PMID: 35844027 Free PMC article.
Egg-laying and locomotory screens with C. elegans yield a nematode-selective small molecule stimulator of neurotransmitter release.
Harrington S, Knox JJ, Burns AR, Choo KL, Au A, Kitner M, Haeberli C, Pyche J, D'Amata C, Kim YH, Volpatti JR, Guiliani M, Snider J, Wong V, Palmeira BM, Redman EM, Vaidya AS, Gilleard JS, Stagljar I, Cutler SR, Kulke D, Dowling JJ, Yip CM, Keiser J, Zasada I, Lautens M, Roy PJ. Harrington S, et al. Among authors: volpatti jr. Commun Biol. 2022 Aug 24;5(1):865. doi: 10.1038/s42003-022-03819-6. Commun Biol. 2022. PMID: 36002479 Free PMC article.