Mutated Genes
2010
- Tijero B, Gomez-Esteban JC, Llorens V, Lezcano E, Gonzalez-Fernández MC, de Pancorbo MM, Ruiz-Martinez J, et al. Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the alpha-synuclein gene (SNCA). Clin Auton Res. 2010 Aug; 20(4): 267-9. (BSIT)
2015
- Cenedese V, Mezzavilla M, Morgan A, Marino R, Ettorre CP, Margaglione M, Gasparini P, Menini A. Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2. PLoS One. 2015 Jan 30;10(1):e0116483. (UPSIT)
2016
- Machaczka M, Paucar M, Björkvall CK, Smith NJC, Cox TM, Forsgren L, Svenningsson P. Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients. Blood Cells Mol Dis. 2018 Feb;68:86-92. doi: 10.1016/j.bcmd.2016.10.011. Epub 2016 Oct 21. PMID: 27789132. (UPSIT)
2020
- Alfaro R, Doty T, Narayanan A, Lugar H, Hershey T, Pepino MY. Taste and smell function in Wolfram syndrome. Orphanet J Rare Dis. 2020 Feb 22;15(1):57. (UPSIT)