Mitochondrial DNA abnormalities in ophthalmological disease

Por Gorman, Grainne S., Taylor, Robert W.
Publicado em 2011

How can we treat mitochondrial encephalomyopathies? approaches to therapy

Por Horvath, Rita, Gorman, Grainne, Chinnery, Patrick F.
Publicado no Neurotherapeutics (2008)

Mitochondrial Donation — How Many Women Could Benefit?

Por Gorman, Gráinne S., Grady, John P., Turnbull, Doug M.
Publicado no N Engl J Med (2015)

Generating hand dysaesthesiae: the “GHD phenomenon” – straight to the diagnosis

Por Lonergan, Roisin, Gorman, Grainne, Alexander, Michael D, Killeen, Ronan, de Blacam, Catherine, Tubridy, Niall
Publicado em 2009

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 no Mov Disord (2015)

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 em 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 no Neuromuscul Disord (2015)

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 em 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 no J Neuromuscul Dis (2017)

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 no Neuropathol Appl Neurobiol (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 em 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 em 2013

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

Por Hollingsworth, Kieren G., Gorman, Grainne S., Trenell, Michael I., McFarland, Robert, Taylor, Robert W., Turnbull, Douglass M., MacGowan, Guy A., Blamire, Andrew M., Chinnery, Patrick F.
Publicado em 2012

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Por Newman, Jane, Galna, Brook, Jakovljevic, Djordje G., Bates, Matthew G., Schaefer, Andrew M., McFarland, Robert, Turnbull, Douglass M., Trenell, Michael I., Taylor, Robert W., Rochester, Lynn, Gorman, Gráinne S.
Publicado no J Neuromuscul Dis (2015)

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

Por 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
Publicado em 2014

Epilepsy in adults with mitochondrial disease: A cohort study

Por Whittaker, Roger G., Devine, Helen E., Gorman, Grainne S., Schaefer, Andrew M., Horvath, Rita, Ng, Yi, Nesbitt, Victoria, Lax, Nichola Z., McFarland, Robert, Cunningham, Mark O., Taylor, Robert W., Turnbull, Douglass M.
Publicado no Ann Neurol (2015)

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

Por 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
Publicado no Sci Rep (2016)

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Por Kullar, Peter J., Quail, Jenna, Lindsey, Phillip, Wilson, Janet A., Horvath, Rita, Yu-Wai-Man, Patrick, Gorman, Grainne S., Taylor, Robert W., Ng, Yi, McFarland, Robert, Moore, Brian C. J., Chinnery, Patrick F.
Publicado no Brain (2016)

Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia

Por Yu-Wai-Man, Cynthia, Smith, Fiona E., Firbank, Michael J., Guthrie, Grant, Guthrie, Stuart, Gorman, Grainne S., Taylor, Robert W., Turnbull, Douglass M., Griffiths, Philip G., Blamire, Andrew M., Chinnery, Patrick F., Yu-Wai-Man, Patrick
Publicado em 2013

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Por Gorman, Gráinne S., Schaefer, Andrew M., Ng, Yi, Gomez, Nicholas, Blakely, Emma L., Alston, Charlotte L., Feeney, Catherine, Horvath, Rita, Yu‐Wai‐Man, Patrick, Chinnery, Patrick F., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert
Publicado no Ann Neurol (2015)