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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL. Sernadela P, et al. Among authors: orth m. Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29. Biomed Res Int. 2017. PMID: 29214177 Free PMC article.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
Haplotype-based stratification of Huntington's disease.
Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: orth m. Eur J Hum Genet. 2017 Nov;25(11):1202-1209. doi: 10.1038/ejhg.2017.125. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832564 Free PMC article.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Kim KH, et al. Among authors: orth m. Am J Hum Genet. 2020 Jul 2;107(1):96-110. doi: 10.1016/j.ajhg.2020.05.012. Epub 2020 Jun 25. Am J Hum Genet. 2020. PMID: 32589923 Free PMC article.
A modifier of Huntington's disease onset at the MLH1 locus.
Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: orth m. Hum Mol Genet. 2017 Oct 1;26(19):3859-3867. doi: 10.1093/hmg/ddx286. Hum Mol Genet. 2017. PMID: 28934397 Free PMC article.
Neurophysiology in Huntington's disease: an update.
Mayer IM, Orth M. Mayer IM, et al. Among authors: orth m. Neurodegener Dis Manag. 2014;4(2):155-64. doi: 10.2217/nmt.14.1. Neurodegener Dis Manag. 2014. PMID: 24832033 Review.
499 results