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GNE myopathy: current update and future therapy.
Nishino I, Carrillo-Carrasco N, Argov Z. Nishino I, et al. Among authors: argov z. J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):385-92. doi: 10.1136/jnnp-2013-307051. Epub 2014 Jul 7. J Neurol Neurosurg Psychiatry. 2015. PMID: 25002140 Free PMC article. Review.
GNE myopathy: new name and new mutation nomenclature.
Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I. Huizing M, et al. Among authors: argov z. Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13. Neuromuscul Disord. 2014. PMID: 24685570 Free PMC article. No abstract available.
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H. Pogoryelova O, et al. Among authors: argov z. Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14. Neuromuscul Disord. 2018. PMID: 29305133 Free PMC article.
GNE genotype explains 20% of phenotypic variability in GNE myopathy.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H. Pogoryelova O, et al. Among authors: argov z. Neurol Genet. 2019 Feb 1;5(1):e308. doi: 10.1212/NXG.0000000000000308. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842975 Free PMC article.
176 results