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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA. Kennerson ML, et al. Among authors: rance g. Hum Mol Genet. 2013 Apr 1;22(7):1404-16. doi: 10.1093/hmg/dds557. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297365 Free PMC article.
Auditory perception in individuals with Friedreich's ataxia.
Rance G, Corben L, Barker E, Carew P, Chisari D, Rogers M, Dowell R, Jamaluddin S, Bryson R, Delatycki MB. Rance G, et al. Audiol Neurootol. 2010;15(4):229-40. doi: 10.1159/000255341. Epub 2009 Nov 5. Audiol Neurootol. 2010. PMID: 19893304
Auditory neuropathy in individuals with Type 1 diabetes.
Rance G, Chisari D, O'Hare F, Roberts L, Shaw J, Jandeleit-Dahm K, Szmulewicz D. Rance G, et al. J Neurol. 2014 Aug;261(8):1531-6. doi: 10.1007/s00415-014-7371-2. Epub 2014 May 21. J Neurol. 2014. PMID: 24846202
152 results