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Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A. Minocherhomji S, et al. Among authors: tumer z. Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1. Hum Mol Genet. 2014. PMID: 24986922 Free PMC article.
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Hasholt L, Ballegaard M, Bundgaard H, Christiansen M, Law I, Lund AM, Norremolle A, Krogh Rasmussen A, Ravn K, Tumer Z, Wibrand F, Feldt-Rasmussen U. Hasholt L, et al. Among authors: tumer z. Scand J Clin Lab Invest. 2017 Dec;77(8):617-621. doi: 10.1080/00365513.2017.1390782. Epub 2017 Oct 16. Scand J Clin Lab Invest. 2017. PMID: 29037082
232 results