Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation

অনুযায়ী Blakely, Emma L., Alston, Charlotte L., Lecky, Bryan, Chakrabarti, Biswajit, Falkous, Gavin, Turnbull, Douglass M., Taylor, Robert W., Gorman, Grainne S.
প্রকাশিত 2014

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

অনুযায়ী Reimann, Jens, Lehmann, Diana, Hardy, Steven A., Falkous, Gavin, Knowles, Charlotte V.Y., Jones, Rachel L., Kunz, Wolfram S., Taylor, Robert W., Kornblum, Cornelia
প্রকাশিত Neurol Genet (2017)

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

অনুযায়ী Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
প্রকাশিত Neurol Genet (2017)

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

অনুযায়ী Smith, Frances, Hopton, Sila, Dallabona, Cristina, Gilberti, Micol, Falkous, Gavin, Norwood, Fiona, Donnini, Claudia, Gorman, Gráinne S., Clark, Barnaby, Taylor, Robert W., Kulasekararaj, Austin G.
প্রকাশিত Haematologica (2018)

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

অনুযায়ী Lim, Albert Z., Blakely, Emma L., Baty, Karen, He, Langping, Hopton, Sila, Falkous, Gavin, McWilliam, Kenneth, Cozens, Alison, McFarland, Robert, Taylor, Robert W.
প্রকাশিত Mitochondrion (2019)

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

অনুযায়ী Zierz, Charlotte M., Baty, Karen, Blakely, Emma L., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Hadjivassiliou, Marios, Sarrigiannis, Ptolemaios G., Ng, Yi Shiau, Taylor, Robert W.
প্রকাশিত J Clin Med (2019)

Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy

অনুযায়ী Murphy, Julie L., Ratnaike, Thiloka E., Shang, Ersong, Falkous, Gavin, Blakely, Emma L., Alston, Charlotte L., Taivassalo, Tanja, Haller, Ronald G., Taylor, Robert W., Turnbull, Doug M.
প্রকাশিত 2012

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

অনুযায়ী Ahmed, Syeda T., Alston, Charlotte L., Hopton, Sila, He, Langping, Hargreaves, Iain P., Falkous, Gavin, Oláhová, Monika, McFarland, Robert, Turnbull, Doug M., Rocha, Mariana C., Taylor, Robert W.
প্রকাশিত Sci Rep (2017)

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

অনুযায়ী Ng, Yi Shiau, Thompson, Kyle, Loher, Daniela, Hopton, Sila, Falkous, Gavin, Hardy, Steven A., Schaefer, Andrew M., Shaunak, Sandip, Roberts, Mark E., Lilleker, James B., Taylor, Robert W.
প্রকাশিত Front Genet (2020)

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

অনুযায়ী Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
প্রকাশিত Neuromuscul Disord (2020)

Disease progression in patients with single, large-scale mitochondrial DNA deletions

অনুযায়ী Grady, John P., Campbell, Georgia, Ratnaike, Thiloka, Blakely, Emma L., Falkous, Gavin, Nesbitt, Victoria, Schaefer, Andrew M., McNally, Richard J., Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert
প্রকাশিত 2014

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

অনুযায়ী Vincent, Amy E., Ng, Yi Shiau, White, Kathryn, Davey, Tracey, Mannella, Carmen, Falkous, Gavin, Feeney, Catherine, Schaefer, Andrew M., McFarland, Robert, Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., Picard, Martin
প্রকাশিত Sci Rep (2016)

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

অনুযায়ী Sithamparanathan, Sasiharan, Rocha, Mariana C., Parikh, Jehill D., Rygiel, Karolina A., Falkous, Gavin, Grady, John P., Hollingsworth, Kieren G., Trenell, Michael I., Taylor, Robert W., Turnbull, Doug M., Gorman, Gráinne S., Corris, Paul A.
প্রকাশিত Pulm Circ (2018)

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

অনুযায়ী Vincent, Amy E., White, Kathryn, Davey, Tracey, Philips, Jonathan, Ogden, R. Todd, Lawless, Conor, Warren, Charlotte, Hall, Matt G., Ng, Yi Shiau, Falkous, Gavin, Holden, Thomas, Deehan, David, Taylor, Robert W., Turnbull, Doug M., Picard, Martin
প্রকাশিত Cell Rep (2019)

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

অনুযায়ী Vincent, Amy E., White, Kathryn, Davey, Tracey, Philips, Jonathan, Ogden, R. Todd, Lawless, Conor, Warren, Charlotte, Hall, Matt G., Ng, Yi Shiau, Falkous, Gavin, Holden, Thomas, Deehan, David, Taylor, Robert W., Turnbull, Doug M., Picard, Martin
প্রকাশিত Cell Rep (2019)

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

অনুযায়ী 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.
প্রকাশিত J Neuropathol Exp Neurol (2015)

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

অনুযায়ী Gorman, Grainne S., Blakely, Emma L., Hornig-Do, Hue-Tran, Tuppen, Helen A.L., Greaves, Laura C., He, Langping, Baker, Angela, Falkous, Gavin, Newman, Jane, Trenell, Michael I., Lecky, Bryan, Petty, Richard K., Turnbull, Doug M., McFarland, Robert, Taylor, Robert W.
প্রকাশিত Clin Sci (Lond) (2015)

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

অনুযায়ী 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.
প্রকাশিত Clin Genet (2019)

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

অনুযায়ী Hardy, Steven A., Blakely, Emma L., Purvis, Andrew I., Rocha, Mariana C., Ahmed, Syeda, Falkous, Gavin, Poulton, Joanna, Rose, Michael R., O'Mahony, Olivia, Bermingham, Niamh, Dougan, Charlotte F., Ng, Yi Shiau, Horvath, Rita, Turnbull, Doug M., Gorman, Grainne S., Taylor, Robert W.
প্রকাশিত Neurol Genet (2016)

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

অনুযায়ী Ng, Yi Shiau, Grady, John P., Lax, Nichola Z., Bourke, John P., Alston, Charlotte L., Hardy, Steven A., Falkous, Gavin, Schaefer, Andrew G., Radunovic, Aleksandar, Mohiddin, Saidi A., Ralph, Matilda, Alhakim, Ali, Taylor, Robert W., McFarland, Robert, Turnbull, Douglass M., Gorman, Gráinne S.
প্রকাশিত Eur Heart J (2016)