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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: taylor rw. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: taylor rw. J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):883-6. doi: 10.1136/jnnp-2012-302568. Epub 2012 May 10. J Neurol Neurosurg Psychiatry. 2012. PMID: 22577227 Free PMC article.
Universal heteroplasmy of human mitochondrial DNA.
Payne BA, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Payne BA, et al. Among authors: taylor rw. Hum Mol Genet. 2013 Jan 15;22(2):384-90. doi: 10.1093/hmg/dds435. Epub 2012 Oct 16. Hum Mol Genet. 2013. PMID: 23077218 Free PMC article.
Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.
Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM. Spendiff S, et al. Among authors: taylor rw. Hum Mol Genet. 2013 Dec 1;22(23):4739-47. doi: 10.1093/hmg/ddt327. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847047 Free PMC article.
963 results