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CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. Brockmann SJ, et al. Among authors: orth m. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
Impact of the control for corrupted diffusion tensor imaging data in comparisons at the group level: an application in Huntington disease.
Müller HP, Kassubek J, Grön G, Sprengelmeyer R, Ludolph AC, Klöppel S, Hobbs NZ, Roos RA, Duerr A, Tabrizi SJ, Orth M, Süssmuth SD, Landwehrmeyer GB. Müller HP, et al. Among authors: orth m. Biomed Eng Online. 2014 Sep 1;13:128. doi: 10.1186/1475-925X-13-128. Biomed Eng Online. 2014. PMID: 25178314 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.
499 results