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Consensus clinical management guidelines for Friedreich ataxia.
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7. Orphanet J Rare Dis. 2014. PMID: 25928624 Free PMC article. Review.
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.
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
Yiu EM, Tai G, Peverill RE, Lee KJ, Croft KD, Mori TA, Scheiber-Mojdehkar B, Sturm B, Praschberger M, Vogel AP, Rance G, Stephenson SE, Sarsero JP, Stockley C, Lee CY, Churchyard A, Evans-Galea MV, Ryan MM, Lockhart PJ, Corben LA, Delatycki MB. Yiu EM, et al. Among authors: rance g. J Neurol. 2015 May;262(5):1344-53. doi: 10.1007/s00415-015-7719-2. Epub 2015 Apr 7. J Neurol. 2015. PMID: 25845763 Clinical Trial.
Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia.
Corben LA, Klopper F, Stagnitti M, Georgiou-Karistianis N, Bradshaw JL, Rance G, Delatycki MB. Corben LA, et al. Among authors: rance g. Cerebellum. 2017 Aug;16(4):757-763. doi: 10.1007/s12311-017-0848-7. Cerebellum. 2017. PMID: 28229372
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
140 results