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Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E. Miskinyte S, et al. Among authors: woimant f. Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596366 Free PMC article.
A hereditary moyamoya syndrome with multisystemic manifestations.
Hervé D, Touraine P, Verloes A, Miskinyte S, Krivosic V, Logeart D, Alili N, Laredo JD, Gaudric A, Houdart E, Metzger JP, Tournier-Lasserve E, Woimant F. Hervé D, et al. Among authors: woimant f. Neurology. 2010 Jul 20;75(3):259-64. doi: 10.1212/WNL.0b013e3181e8ee3f. Neurology. 2010. PMID: 20644152
[Wilson disease].
Woimant F, Chaine P, Favrole P, Mikol J, Chappuis P. Woimant F, et al. Rev Neurol (Paris). 2006 Jun;162(6-7):773-81. doi: 10.1016/s0035-3787(06)75080-9. Rev Neurol (Paris). 2006. PMID: 16840991 Review. French.
[Abnormal copper metabolism in adult].
Trocello JM, Chappuis P, El Balkhi S, Poupon J, Leyendecker A, Chaine P, Woimant F. Trocello JM, et al. Among authors: woimant f. Rev Med Interne. 2010 Nov;31(11):750-6. doi: 10.1016/j.revmed.2009.11.012. Rev Med Interne. 2010. PMID: 20554092 Review. French.
193 results