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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: rothberg pg. 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.
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: rothberg pg. 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.
Another disorder finds its gene.
Ramirez-Montealegre D, Rothberg PG, Pearce DA. Ramirez-Montealegre D, et al. Among authors: rothberg pg. Brain. 2006 Jun;129(Pt 6):1353-6. doi: 10.1093/brain/awl132. Brain. 2006. PMID: 16738059 Review. No abstract available.
102 results