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Page 1
The clinical relevance of MOG antibody testing in cerebrospinal fluid.
Reynolds M, Tan I, Nguyen K, Merheb V, Lee FXZ, Trewin BP, Lerch M, Shah S, Wolfe N, Buzzard K, Lechner-Scott J, Fabis-Pedrini M, Fok A, John N, Kneebone C, Yiannikas C, Brown DA, Kermode AG, Reddel S, Dale RC, Brilot F, Ramanathan S; Australasian MOGAD Study Group. Reynolds M, et al. Ann Clin Transl Neurol. 2024 Sep;11(9):2514-2519. doi: 10.1002/acn3.52163. Epub 2024 Jul 28. Ann Clin Transl Neurol. 2024. PMID: 39073255 Free PMC article.
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: yiu em. 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.
A longitudinal study of the Friedreich Ataxia Impact Scale.
Tai G, Yiu EM, Corben LA, Delatycki MB. Tai G, et al. Among authors: yiu em. J Neurol Sci. 2015 May 15;352(1-2):53-7. doi: 10.1016/j.jns.2015.03.024. Epub 2015 Mar 21. J Neurol Sci. 2015. PMID: 25840637
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. 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.
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.
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. Galea CA, et al. Among authors: yiu em. Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595. Ann Neurol. 2016. PMID: 26704351
137 results