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

Yazar: Miwa, Satomi, Jow, Howsun, Baty, Karen, Johnson, Amy, Czapiewski, Rafal, Saretzki, Gabriele, Treumann, Achim, von Zglinicki, Thomas
Baskı/Yayın Bilgisi 2014

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

Yazar: Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R., Baty, Karen, Blakely, Emma L., Zierz, Stephan, Taylor, Robert W., Deschauer, Marcus
Yayımlandı Neuromuscul Disord (2015)

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

Yazar: Armstrong, Michael C., Šestak, Sergej, Ali, Ahmed A., Sagini, Hanan A. M., Brown, Max, Baty, Karen, Treumann, Achim, Schröder, Martin
Yayımlandı Mol Cell Biol (2017)

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

Yazar: Lim, Albert Z., Blakely, Emma L., Baty, Karen, He, Langping, Hopton, Sila, Falkous, Gavin, McWilliam, Kenneth, Cozens, Alison, McFarland, Robert, Taylor, Robert W.
Yayımlandı Mitochondrion (2019)

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

Yazar: Zierz, Charlotte M., Baty, Karen, Blakely, Emma L., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Hadjivassiliou, Marios, Sarrigiannis, Ptolemaios G., Ng, Yi Shiau, Taylor, Robert W.
Yayımlandı J Clin Med (2019)

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

Yazar: Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Yayımlandı Eur J Hum Genet (2015)

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

Yazar: Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
Yayımlandı Neuromuscul Disord (2020)