Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

por Reimann, Jens, Lehmann, Diana, Hardy, Steven A., Falkous, Gavin, Knowles, Charlotte V.Y., Jones, Rachel L., Kunz, Wolfram S., Taylor, Robert W., Kornblum, Cornelia
Publicado 2017

Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

por Schoeman, Elizna M., Van Der Westhuizen, Francois H., Erasmus, Elardus, van Dyk, Etresia, Knowles, Charlotte V. Y., Al-Ali, Shereen, Ng, Wan-Fai, Taylor, Robert W., Newton, Julia L., Elson, Joanna L.
Publicado 2017

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

por Mavraki, Eleni, Labrum, Robyn, Sergeant, Kate, Alston, Charlotte L., Woodward, Cathy, Smith, Conrad, Knowles, Charlotte V. Y., Patel, Yogen, Hodsdon, Philip, Baines, Jack P., Blakely, Emma L., Polke, James, Taylor, Robert W., Fratter, Carl
Publicado 2022