A national perspective on prenatal testing for mitochondrial disease

by Nesbitt, Victoria, Alston, Charlotte L, Blakely, Emma L, Fratter, Carl, Feeney, Catherine L, Poulton, Joanna, Brown, Garry K, Turnbull, Doug M, Taylor, Robert W, McFarland, Robert
Published 2014

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to...

by Lax, Nichola Z., Alston, Charlotte L., Schon, Katherine, Park, Soo-Mi, Krishnakumar, Deepa, He, Langping, Falkous, Gavin, Ogilvy-Stuart, Amanda, Lees, Christoph, King, Rosalind H., Hargreaves, Iain P., Brown, Garry K., McFarland, Robert, Dean, Andrew F., Taylor, Robert W.
Published 2015

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

by Ferdinandusse, Sacha, Waterham, Hans R, Heales, Simon JR, Brown, Garry K, Hargreaves, Iain P, Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald JA, Clayton, Peter T, Leonard, James V, Rahman, Shamima
Published 2013

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

by Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica AC, He, Langping, Morris, Andrew AM, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia MA, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W
Published 2015

SURF1 deficiency: a multi-centre natural history study

by Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima
Published 2013

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

by Oláhová, Monika, Hardy, Steven A., Hall, Julie, Yarham, John W., Haack, Tobias B., Wilson, William C., Alston, Charlotte L., He, Langping, Aznauryan, Erik, Brown, Ruth M., Brown, Garry K., Morris, Andrew A. M., Mundy, Helen, Broomfield, Alex, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M., Bonnen, Penelope E., Prokisch, Holger, Lightowlers, Robert N., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Taylor, Robert W.
Published 2015