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Myoclonus-dystonia syndrome associated with Russell Silver syndrome.
Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. Augustine EF, et al. Among authors: mink jw. Mov Disord. 2013 Jun;28(6):841-2. doi: 10.1002/mds.25483. Epub 2013 May 23. Mov Disord. 2013. PMID: 23703955 Free PMC article. No abstract available.
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: mink jw. 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: mink jw. 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: mink jw. Neurol Clin Pract. 2012 Dec;2(4):311-318. doi: 10.1212/CPJ.0b013e318278bf06. Neurol Clin Pract. 2012. PMID: 23634375 Free PMC article.
189 results