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Current treatments in familial dysautonomia.
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H. Palma JA, et al. Expert Opin Pharmacother. 2014 Dec;15(18):2653-71. doi: 10.1517/14656566.2014.970530. Epub 2014 Oct 17. Expert Opin Pharmacother. 2014. PMID: 25323828 Free PMC article. Review.
Progressive retinal structure abnormalities in multiple system atrophy.
Mendoza-Santiesteban CE, Palma JA, Martinez J, Norcliffe-Kaufmann L, Hedges TR 3rd, Kaufmann H. Mendoza-Santiesteban CE, et al. Mov Disord. 2015 Dec;30(14):1944-53. doi: 10.1002/mds.26360. Epub 2015 Sep 11. Mov Disord. 2015. PMID: 26359930 Free PMC article.
Droxidopa in neurogenic orthostatic hypotension.
Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Kaufmann H, et al. Expert Rev Cardiovasc Ther. 2015;13(8):875-91. doi: 10.1586/14779072.2015.1057504. Epub 2015 Jun 19. Expert Rev Cardiovasc Ther. 2015. PMID: 26092297 Free PMC article.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. Gao D, et al. Nat Commun. 2021 Jun 7;12(1):3332. doi: 10.1038/s41467-021-23663-2. Nat Commun. 2021. PMID: 34099697 Free PMC article.