Your search returned 47 results.

Results
	41.	Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. [electronic resource] by Sommerville, Ewen W Dalla Rosa, Ilaria Rosenberg, Masha M Bruni, Francesco Thompson, Kyle Rocha, Mariana Blakely, Emma L He, Langping Falkous, Gavin Schaefer, Andrew M Yu-Wai-Man, Patrick Chinnery, Patrick F Hedstrom, Lizbeth Spinazzola, Antonella Taylor, Robert W Gorman, Gráinne S Producer: 20210208 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. [electronic resource] by Hall, Andrew M Vilasi, Annalisa Garcia-Perez, Isabel Lapsley, Marta Alston, Charlotte L Pitceathly, Robert D S McFarland, Robert Schaefer, Andrew M Turnbull, Doug M Beaumont, Nick J Hsuan, Justin J Cutillas, Pedro R Lindon, John C Holmes, Elaine Unwin, Robert J Taylor, Robert W Gorman, Grainne S Rahman, Shamima Hanna, Michael G Producer: 20160126 In: Kidney international vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. [electronic resource] by Sommerville, Ewen W Ng, Yi Shiau Alston, Charlotte L Dallabona, Cristina Gilberti, Micol He, Langping Knowles, Charlotte Chin, Sophie L Schaefer, Andrew M Falkous, Gavin Murdoch, David Longman, Cheryl de Visser, Marianne Bindoff, Laurence A Rawles, John M Dean, John C S Petty, Richard K Farrugia, Maria E Haack, Tobias B Prokisch, Holger McFarland, Robert Turnbull, Douglass M Donnini, Claudia Taylor, Robert W Gorman, Gráinne S Producer: 20170719 In: JAMA neurology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. [electronic resource] by Pitceathly, Robert D S Smith, Conrad Fratter, Carl Alston, Charlotte L He, Langping Craig, Kate Blakely, Emma L Evans, Julie C Taylor, John Shabbir, Zarfishan Deschauer, Marcus Pohl, Ute Roberts, Mark E Jackson, Matthew C Halfpenny, Christopher A Turnpenny, Peter D Lunt, Peter W Hanna, Michael G Schaefer, Andrew M McFarland, Robert Horvath, Rita Chinnery, Patrick F Turnbull, Douglass M Poulton, Joanna Taylor, Robert W Gorman, Gráinne S Producer: 20130204 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. [electronic resource] by Ng, Yi Shiau Martikainen, Mika H Gorman, Gráinne S Blain, Alasdair Bugiardini, Enrico Bunting, Apphia Schaefer, Andrew M Alston, Charlotte L Blakely, Emma L Sharma, Sunil Hughes, Imelda Lim, Albert de Goede, Christian McEntagart, Meriel Spinty, Stefan Horrocks, Iain Roberts, Mark Woodward, Cathy E Chinnery, Patrick F Horvath, Rita Nesbitt, Victoria Fratter, Carl Poulton, Joanna Hanna, Michael G Pitceathly, Robert D S Taylor, Robert W Turnbull, Doug M McFarland, Robert Producer: 20200330 In: Annals of neurology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. [electronic resource] by Pfeffer, Gerald Gorman, Gráinne S Griffin, Helen Kurzawa-Akanbi, Marzena Blakely, Emma L Wilson, Ian Sitarz, Kamil Moore, David Murphy, Julie L Alston, Charlotte L Pyle, Angela Coxhead, Jon Payne, Brendan Gorrie, George H Longman, Cheryl Hadjivassiliou, Marios McConville, John Dick, David Imam, Ibrahim Hilton, David Norwood, Fiona Baker, Mark R Jaiser, Stephan R Yu-Wai-Man, Patrick Farrell, Michael McCarthy, Allan Lynch, Timothy McFarland, Robert Schaefer, Andrew M Turnbull, Douglass M Horvath, Rita Taylor, Robert W Chinnery, Patrick F Producer: 20140609 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. [electronic resource] by Ng, Yi Shiau Lax, Nichola Z Maddison, Paul Alston, Charlotte L Blakely, Emma L Hepplewhite, Philippa D Riordan, Gillian Meldau, Surita Chinnery, Patrick F Pierre, Germaine Chronopoulou, Efstathia Du, Ailian Hughes, Imelda Morris, Andrew A Kamakari, Smaragda Chrousos, Georgia Rodenburg, Richard J Saris, Christiaan G J Feeney, Catherine Hardy, Steven A Sakakibara, Takafumi Sudo, Akira Okazaki, Yasushi Murayama, Kei Mundy, Helen Hanna, Michael G Ohtake, Akira Schaefer, Andrew M Champion, Mike P Turnbull, Doug M Taylor, Robert W Pitceathly, Robert D S McFarland, Robert Gorman, Gráinne S Producer: 20180921 In: EBioMedicine vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)