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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: houlden h. Rare Dis. 2016 Jun 22;4(1):e1198458. doi: 10.1080/21675511.2016.1198458. eCollection 2016. Rare Dis. 2016. PMID: 27500074 Free PMC article.
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. Among authors: houlden h. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Among authors: houlden h. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H; United Kingdom Brain Expression Consortium. Bettencourt C, et al. Among authors: houlden h. JAMA Neurol. 2014 Jul 1;71(7):831-9. doi: 10.1001/jamaneurol.2014.756. JAMA Neurol. 2014. PMID: 24862029 Free PMC article. Clinical Trial.
Genetic advances in sporadic inclusion body myositis.
Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM. Gang Q, et al. Among authors: houlden h. Curr Opin Rheumatol. 2015 Nov;27(6):586-94. doi: 10.1097/BOR.0000000000000213. Curr Opin Rheumatol. 2015. PMID: 26335925 Review.
Gene co-expression networks shed light into diseases of brain iron accumulation.
Bettencourt C, Forabosco P, Wiethoff S, Heidari M, Johnstone DM, Botía JA, Collingwood JF, Hardy J; UK Brain Expression Consortium (UKBEC); Milward EA, Ryten M, Houlden H. Bettencourt C, et al. Among authors: houlden h. Neurobiol Dis. 2016 Mar;87:59-68. doi: 10.1016/j.nbd.2015.12.004. Epub 2015 Dec 18. Neurobiol Dis. 2016. PMID: 26707700 Free PMC article.
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
Wiethoff S, Bettencourt C, Paudel R, Madon P, Liu YT, Hersheson J, Wadia N, Desai J, Houlden H. Wiethoff S, et al. Among authors: houlden h. Cerebellum. 2017 Feb;16(1):262-267. doi: 10.1007/s12311-016-0769-x. Cerebellum. 2017. PMID: 26995604 Free PMC article.
883 results