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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Toussaint A, et al. Among authors: hnia k. Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7. Acta Neuropathol. 2011. PMID: 20927630
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH. Gupta VA, et al. Among authors: hnia k. PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20. PLoS Genet. 2013. PMID: 23818870 Free PMC article.
36 results