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Page 1
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.
Raposo M, Bettencourt C, Melo ARV, Ferreira AF, Alonso I, Silva P, Vasconcelos J, Kay T, Saraiva-Pereira ML, Costa MD, Vilasboas-Campos D, Bettencourt BF, Bruges-Armas J, Houlden H, Heutink P, Jardim LB, Sequeiros J, Maciel P, Lima M. Raposo M, et al. Among authors: houlden h. Neurobiol Dis. 2022 Jan;162:105578. doi: 10.1016/j.nbd.2021.105578. Epub 2021 Dec 3. Neurobiol Dis. 2022. PMID: 34871736 Free article.
Assessment of Parkinson's disease risk loci in Greece.
Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, Bostantjopoulou S, Keller MF, Wood NW, Hardy J, Houlden H, Stefanis L, Plaitakis A, Hernandez D, Hadjigeorgiou GM, Nalls MA, Singleton AB. Kara E, et al. Among authors: houlden h. Neurobiol Aging. 2014 Feb;35(2):442.e9-442.e16. doi: 10.1016/j.neurobiolaging.2013.07.011. Epub 2013 Sep 27. Neurobiol Aging. 2014. PMID: 24080174 Free PMC article.
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H. Wiethoff S, et al. Among authors: houlden h. J Neurol Sci. 2014 Apr 15;339(1-2):220-2. doi: 10.1016/j.jns.2014.01.034. Epub 2014 Feb 1. J Neurol Sci. 2014. PMID: 24529944 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.
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#). Gang Q, et al. Among authors: houlden h. Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14. Neurobiol Aging. 2015. PMID: 25670332 Free PMC article.
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.
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, Mizielinska S, Polke JM, Holton JL, Isaacs AM, Houlden H, Revesz T, Lashley T. Gami P, et al. Among authors: houlden h. Acta Neuropathol. 2015 Oct;130(4):599-601. doi: 10.1007/s00401-015-1473-5. Epub 2015 Sep 7. Acta Neuropathol. 2015. PMID: 26347457 No abstract available.
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