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Gene-targeted therapies: Towards equitable development, diagnosis, and access.
Gaviglio AM, Skinner MW, Lou LJ, Finkel RS, Augustine EF, Goldenberg AJ. Gaviglio AM, et al. Among authors: augustine ef. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):56-63. doi: 10.1002/ajmg.c.32032. Epub 2023 Jan 23. Am J Med Genet C Semin Med Genet. 2023. PMID: 36688577
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.
Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW. Cialone J, et al. Among authors: augustine ef. J Inherit Metab Dis. 2011 Oct;34(5):1075-81. doi: 10.1007/s10545-011-9346-0. Epub 2011 May 10. J Inherit Metab Dis. 2011. PMID: 21556831 Free PMC article.
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Kwon JM, et al. Among authors: augustine ef. Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19. Neurology. 2011. PMID: 22013180 Free PMC article.
Females experience a more severe disease course in Batten disease.
Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW. Cialone J, et al. Among authors: augustine ef. J Inherit Metab Dis. 2012 May;35(3):549-55. doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167274 Free PMC article.
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW; Batten Study Group. de Blieck EA, et al. Among authors: augustine ef. Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26. Contemp Clin Trials. 2013. PMID: 23628560 Free PMC article.
Pediatric movement disorders: Five new things.
Blackburn JS, Mink JW, Augustine EF. Blackburn JS, et al. Among authors: augustine ef. Neurol Clin Pract. 2012 Dec;2(4):311-318. doi: 10.1212/CPJ.0b013e318278bf06. Neurol Clin Pract. 2012. PMID: 23634375 Free PMC article.
70 results