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Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH, Malamiri RA, Ghofrani M, Karimzadeh P, Mohammadi MM, Baghalshooshtari A, Bozorgmehr B, Kariminejad MH, Postma N, Abbink TE, van der Knaap MS. Kariminejad A, et al. Among authors: rajaee a. Eur J Med Genet. 2015 Feb;58(2):71-4. doi: 10.1016/j.ejmg.2014.12.004. Epub 2014 Dec 11. Eur J Med Genet. 2015. PMID: 25497041
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Among authors: rajaee a. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
45 results