Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

by Yi Shiau Ng, Yi Shiau Ng, Kyle Thompson, Daniela Loher, Daniela Loher, Sila Hopton, Sila Hopton, Gavin Falkous, Gavin Falkous, Steven A. Hardy, Steven A. Hardy, Andrew M. Schaefer, Andrew M. Schaefer, Sandip Shaunak, Mark E. Roberts, James B. Lilleker, James B. Lilleker, Robert W. Taylor, Robert W. Taylor
Published 2020-02-01

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

by Charlotte M. Zierz, Karen Baty, Emma L. Blakely, Sila Hopton, Gavin Falkous, Andrew M. Schaefer, Marios Hadjivassiliou, Ptolemaios G. Sarrigiannis, Yi Shiau Ng, Robert W. Taylor
Published 2019-06-01

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study

by Sasiharan Sithamparanathan, Mariana C. Rocha, Jehill D. Parikh, Karolina A. Rygiel, Gavin Falkous, John P. Grady, Kieren G. Hollingsworth, Michael I. Trenell, Robert W. Taylor, Doug M. Turnbull, Gráinne S. Gorman, Paul A. Corris
Published 2018-05-01

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

by Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick
Published 2019-03-01