Baty K - Search Results

1

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. Armstrong MC, et al. Among authors: baty k. Mol Cell Biol. 2017 Jul 28;37(16):e00655-16. doi: 10.1128/MCB.00655-16. Print 2017 Aug 15. Mol Cell Biol. 2017. PMID: 28559428 Free PMC article.

2

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. Miwa S, et al. Among authors: baty k. Nat Commun. 2014 May 12;5:3837. doi: 10.1038/ncomms4837. Nat Commun. 2014. PMID: 24815183 Free PMC article.

3

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. Lehmann D, et al. Among authors: baty k. Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15. Eur J Hum Genet. 2015. PMID: 25873012 Free PMC article.

4

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA^Pro) gene variant.

Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M. Joshi PR, et al. Among authors: baty k. Neuromuscul Disord. 2020 Apr;30(4):346-350. doi: 10.1016/j.nmd.2020.02.020. Epub 2020 Mar 5. Neuromuscul Disord. 2020. PMID: 32305257 Free article.

5

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. Lim AZ, et al. Among authors: baty k. Mitochondrion. 2019 Jul;47:18-23. doi: 10.1016/j.mito.2019.04.007. Epub 2019 Apr 22. Mitochondrion. 2019. PMID: 31022467 Free PMC article. Clinical Trial.

6

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. Zierz CM, et al. Among authors: baty k. J Clin Med. 2019 Jun 4;8(6):789. doi: 10.3390/jcm8060789. J Clin Med. 2019. PMID: 31167410 Free PMC article.

7

Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.

O'Donnell L, Blakely EL, Baty K, Alexander M, Bogdanova-Mihaylova P, Craig J, Walsh R, Brett F, Taylor RW, Murphy SM. O'Donnell L, et al. Among authors: baty k. J Neuromuscul Dis. 2020;7(3):355-360. doi: 10.3233/JND-200486. J Neuromuscul Dis. 2020. PMID: 32310184

8

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Lim AZ, McMacken G, Rastelli F, Oláhová M, Baty K, Hopton S, Falkous G, Töpf A, Lochmüller H, Marini-Bettolo C, McFarland R, Taylor RW. Lim AZ, et al. Among authors: baty k. Neuromuscul Disord. 2020 Aug;30(8):661-668. doi: 10.1016/j.nmd.2020.06.008. Epub 2020 Jun 24. Neuromuscul Disord. 2020. PMID: 32684384 Free PMC article.

9

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.

Baty K, Farrugia ME, Hopton S, Falkous G, Schaefer AM, Stewart W, Willison HJ, Reilly MM, Blakely EL, Taylor RW, Ng YS. Baty K, et al. Neuromuscul Disord. 2021 Nov;31(11):1186-1193. doi: 10.1016/j.nmd.2021.05.014. Epub 2021 Jun 4. Neuromuscul Disord. 2021. PMID: 34325999 Free PMC article.

10

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. Lehmann D, et al. Among authors: baty k. Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25447692 Free PMC article.

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