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Page 1
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, Liu G, Morar B, Rackham O, Bynevelt M, Grudkova M, Kamenov Z, Svechtarov V, Tournev I, Kalaydjieva L, Filipovska A. Azmanov DN, et al. Among authors: bynevelt m. Hum Mol Genet. 2016 Oct 1;25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9. Hum Mol Genet. 2016. PMID: 27506977
Diffusion and perfusion magnetic resonance imaging in childhood stroke.
Gadian DG, Calamante F, Kirkham FJ, Bynevelt M, Johnson CL, Porter DA, Chong WK, Prengler M, Connelly A. Gadian DG, et al. Among authors: bynevelt m. J Child Neurol. 2000 May;15(5):279-83. doi: 10.1177/088307380001500502. J Child Neurol. 2000. PMID: 10830192 Review.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L. Guergueltcheva V, et al. Among authors: bynevelt m. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901947 Free PMC article.
Challenges of diagnostic exome sequencing in an inbred founder population.
Azmanov DN, Chamova T, Tankard R, Gelev V, Bynevelt M, Florez L, Tzoneva D, Zlatareva D, Guergueltcheva V, Bahlo M, Tournev I, Kalaydjieva L. Azmanov DN, et al. Among authors: bynevelt m. Mol Genet Genomic Med. 2013 Jul;1(2):71-6. doi: 10.1002/mgg3.7. Epub 2013 Apr 22. Mol Genet Genomic Med. 2013. PMID: 24498604 Free PMC article.
Synthesis of human amyloid restricted to liver results in an Alzheimer disease-like neurodegenerative phenotype.
Lam V, Takechi R, Hackett MJ, Francis R, Bynevelt M, Celliers LM, Nesbit M, Mamsa S, Arfuso F, Das S, Koentgen F, Hagan M, Codd L, Richardson K, O'Mara B, Scharli RK, Morandeau L, Gauntlett J, Leatherday C, Boucek J, Mamo JCL. Lam V, et al. Among authors: bynevelt m. PLoS Biol. 2021 Sep 14;19(9):e3001358. doi: 10.1371/journal.pbio.3001358. eCollection 2021 Sep. PLoS Biol. 2021. PMID: 34520451 Free PMC article.
Metformin-induced encephalopathy: the role of thiamine.
McGarvey C, Franconi C, Prentice D, Bynevelt M. McGarvey C, et al. Among authors: bynevelt m. Intern Med J. 2018 Feb;48(2):194-197. doi: 10.1111/imj.13693. Intern Med J. 2018. PMID: 29415360
Efficacy of probucol on cognitive function in Alzheimer's disease: study protocol for a double-blind, placebo-controlled, randomised phase II trial (PIA study).
Lam V, Clarnette R, Francis R, Bynevelt M, Watts G, Flicker L, Orr CF, Loh P, Lautenschlager N, Reid CM, Foster JK, Dhaliwal SS, Robinson S, Corti E, Vaccarezza M, Horgan B, Takechi R, Mamo J. Lam V, et al. Among authors: bynevelt m. BMJ Open. 2022 Feb 21;12(2):e058826. doi: 10.1136/bmjopen-2021-058826. BMJ Open. 2022. PMID: 35190446 Free PMC article.
60 results