Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology

por Olkhova, Elizaveta A., Smith, Laura A., Bradshaw, Carla, Gorman, Gráinne S., Erskine, Daniel, Ng, Yi Shiau
Publicado 2023

Scientific and Ethical Issues in Mitochondrial Donation

por Craven, Lyndsey, Murphy, Julie, Turnbull, Doug M., Taylor, Robert W., Gorman, Grainne S., McFarland, Robert
Publicado 2018

Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation

por Martikainen, Mika H., Gorman, Grainne S., Goldsmith, Paul, Burn, David J., Turnbull, Doug M., Schaefer, Andrew M.
Publicado 2015

l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review

por Stefanetti, Renae J., Ng, Yi Shiau, Errington, Linda, Blain, Alasdair P., McFarland, Robert, Gorman, Gráinne S.
Publicado 2022

Habitual Physical Activity in Mitochondrial Disease

por Apabhai, Shehnaz, Gorman, Grainne S., Sutton, Laura, Elson, Joanna L., Plötz, Thomas, Turnbull, Douglass M., Trenell, Michael I.
Publicado 2011

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

por Gorman, Gráinne S., Elson, Joanna L., Newman, Jane, Payne, Brendan, McFarland, Robert, Newton, Julia L., Turnbull, Douglass M.
Publicado 2015

Disease burden of myotonic dystrophy type 1

por Landfeldt, Erik, Nikolenko, Nikoletta, Jimenez-Moreno, Cecilia, Cumming, Sarah, Monckton, Darren G., Gorman, Grainne, Turner, Chris, Lochmüller, Hanns
Publicado 2019

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder

por Bourke, John P, Ng, Yi Shiau, Tynan, Margaret, Bates, Matthew G D, Mohiddin, Saidi, Turnbull, Doug, Gorman, Grainne S
Publicado 2022

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy

por Jimenez-Moreno, Aura Cecilia, Charman, Sarah J., Nikolenko, Nikoletta, Larweh, Maxwell, Turner, Chris, Gorman, Grainne, Lochmüller, Hanns, Catt, Michael
Publicado 2018

COVID-19–Related Outcomes in Primary Mitochondrial Diseases: An International Study

por Pizzamiglio, Chiara, Machado, Pedro M., Thomas, Rhys H., Gorman, Gráinne S., McFarland, Robert, Hanna, Michael G., Pitceathly, Robert D. S.
Publicado 2022

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

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

Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review

por Jimenez-Moreno, Aura Cecilia, Newman, Jane, Charman, Sarah J., Catt, Michael, Trenell, Michael I., Gorman, Grainne S., Hogrel, Jean-Yves, Lochmüller, Hanns
Publicado 2017

Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses

por Stefanetti, Renae J., Blain, Alasdair, Jimenez-Moreno, Cecilia, Errington, Linda, Ng, Yi Shiau, McFarland, Robert, Turnbull, Doug M., Newman, Jane, Gorman, Gráinne S
Publicado 2020

Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study

por Braz, Luis P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., McFarland, Robert, Taylor, Robert W., Turnbull, Doug M., Whittaker, Roger G.
Publicado 2021

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

por Landfeldt, Erik, Nikolenko, Nikoletta, Jimenez-Moreno, Cecilia, Cumming, Sarah, Monckton, Darren G., Faber, Catharina G., Merkies, Ingemar S. J., Gorman, Grainne, Turner, Chris, Lochmüller, Hanns
Publicado 2020

A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction

por Olkhova, Elizaveta A., Bradshaw, Carla, Blain, Alasdair, Alvim, Debora, Turnbull, Doug M., LeBeau, Fiona E. N., Ng, Yi Shiau, Gorman, Gráinne S., Lax, Nichola Z.
Publicado 2023

Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1

por Di Leo, Valeria, Lawless, Conor, Roussel, Marie-Pier, Gomes, Tiago B., Gorman, Gráinne S., Russell, Oliver M., Tuppen, Helen A.L., Duchesne, Elise, Vincent, Amy E.
Publicado 2023

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease

por Lax, Nichola Z., Grady, John, Laude, Alex, Chan, Felix, Hepplewhite, Philippa D., Gorman, Grainne, Whittaker, Roger G., Ng, Yi, Cunningham, Mark O., Turnbull, Doug M.
Publicado 2015

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

por Spendiff, Sally, Reza, Mojgan, Murphy, Julie L., Gorman, Grainne, Blakely, Emma L., Taylor, Robert W., Horvath, Rita, Campbell, Georgia, Newman, Jane, Lochmüller, Hanns, Turnbull, Doug M.
Publicado 2013

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

por Galna, Brook, Newman, Jane, Jakovljevic, Djordje G., Bates, Matthew G., Schaefer, Andrew M., McFarland, Robert, Turnbull, Douglass M., Trenell, Michael I., Gorman, Gráinne S., Rochester, Lynn
Publicado 2013