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Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.
Heidari M, Gerami SH, Bassett B, Graham RM, Chua AC, Aryal R, House MJ, Collingwood JF, Bettencourt C, Houlden H, Ryten M; UK Brain Expression Consortium (UKBEC); Olynyk JK, Trinder D, Johnstone DM, Milward EA. Heidari M, et al. Among authors: bettencourt c. Rare Dis. 2016 Jun 22;4(1):e1198458. doi: 10.1080/21675511.2016.1198458. eCollection 2016. Rare Dis. 2016. PMID: 27500074 Free PMC article.
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. Salpietro V, et al. Among authors: bettencourt c. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Mov Disord. 2018. PMID: 29392776 Free PMC article.
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, França M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Siebert M, et al. Among authors: bettencourt c. Parkinsonism Relat Disord. 2012 Feb;18(2):185-90. doi: 10.1016/j.parkreldis.2011.09.024. Epub 2011 Oct 15. Parkinsonism Relat Disord. 2012. PMID: 22001711
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: bettencourt c. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.
134 results