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

Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability

by Heather L. Moore, Thomas Kelly, Alexandra Bright, Robert H. Field, Andrew M. Schaefer, Alasdair P. Blain, Robert W. Taylor, Robert McFarland, Doug M. Turnbull, Gráinne S. Gorman
Published 2019-05-01

Consensus-based statements for the management of mitochondrial stroke-like episodes [version 1; peer review: 2 approved]

by Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull
Published 2019-12-01

Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects

by John P Bourke, Robert McFarland, John O'Sullivan, Yi Shiau Ng, Doug M Turnbull, Albert Zishen Lim, Daniel M Jones, Matthew G D Bates, Andrew M Schaefer, Catherine Feeney, Maria E Farrugia, Gráinne S Gorman
Published 2021-06-01

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

by John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland
Published 2018-06-01

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

by Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Published 2018-04-01