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Items: 7


A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW.

J Clin Med. 2019 Jun 4;8(6). pii: E789. doi: 10.3390/jcm8060789.


A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW.

Mitochondrion. 2019 Apr 22;47:18-23. doi: 10.1016/j.mito.2019.04.007. [Epub ahead of print]


Retrospective comparison of low molecular weight heparin vs. warfarin vs. oral Xa inhibitors for the prevention of recurrent venous thromboembolism in oncology patients: The Re-CLOT study.

Alzghari SK, Seago SE, Garza JE, Hashimie YF, Baty KA, Evans MF, Shaver C, Herrington JD.

J Oncol Pharm Pract. 2018 Oct;24(7):494-500. doi: 10.1177/1078155217718382. Epub 2017 Jul 16. Erratum in: J Oncol Pharm Pract. 2019 Jan;25(1):255.


Bypass of Activation Loop Phosphorylation by Aspartate 836 in Activation of the Endoribonuclease Activity of Ire1.

Armstrong MC, Šestak S, Ali AA, Sagini HAM, Brown M, Baty K, Treumann A, Schröder M.

Mol Cell Biol. 2017 Jul 28;37(16). pii: e00655-16. doi: 10.1128/MCB.00655-16. Print 2017 Aug 15.


Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW.

Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15.


A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M.

Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28.


Low abundance of the matrix arm of complex I in mitochondria predicts longevity in mice.

Miwa S, Jow H, Baty K, Johnson A, Czapiewski R, Saretzki G, Treumann A, von Zglinicki T.

Nat Commun. 2014 May 12;5:3837. doi: 10.1038/ncomms4837.

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