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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: lehesjoki ae. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978
Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T, Lehesjoki AE, Kopra O. Joensuu T, et al. Among authors: lehesjoki ae. Epilepsia. 2008 Apr;49(4):557-63. doi: 10.1111/j.1528-1167.2007.01422.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028412 Free article. Review.
245 results