Author Title Type [ Year(Asc)]
Filters: Keyword is Mutation, Missense  [Clear All Filters]
2011
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, de Bernabé DBeltrán-V, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ et al..  2011.  A dystroglycan mutation associated with limb-girdle muscular dystrophy.. N Engl J Med. 364(10):939-46.
2007
Nguyen C, Nishi A, Kansy JW, Fernandez J, Hayashi K, Gillardon F, Hemmings HC, Nairn AC, Bibb JA.  2007.  Regulation of protein phosphatase inhibitor-1 by cyclin-dependent kinase 5.. J Biol Chem. 282(22):16511-20.
Bitto E, Bingman CA, Wesenberg GE, McCoy JG, Phillips GN.  2007.  Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.. Proc Natl Acad Sci U S A. 104(2):456-61.