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Browsing publications by Karen Baty.

Newcastle AuthorsTitleYearFull text
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
Karen Baty
Sila Hopton
Dr Isabell Cordts
Gavin Falkous
Professor Robert Taylor
et al.
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant2020
Dr Albert Lim
Karen Baty
Dr Langping He
Sila Hopton
Gavin Falkous
et al.
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes2019
Charlotte Zierz
Karen Baty
Sila Hopton
Gavin Falkous
Dr Andrew Schaefer
et al.
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia2019
Karen Baty
Dr Achim Treumann
Bypass of Activation Loop Phosphorylation by Aspartate 836 in Activation of the Endoribonuclease Activity of Ire12017
Dr Diana Lehmann
Karen Baty
Professor Robert Taylor
A novel m.7539C > T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease2015
Dr Diana Lehmann
Dr Steven Hardy
Dr Helen Tuppen
Karen Baty
Professor Robert Taylor
et al.
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy2015
Dr Satomi Miwa
Dr Howsun Jow
Karen Baty
Amy Bell
Dr Rafal Czapiewski
et al.
Low abundance of the matrix arm of complex I in mitochondria predicts longevity in mice2014