Endocrine disorders in mitochondrial disease()

por Schaefer, Andrew M., Walker, Mark, Turnbull, Douglass M., Taylor, Robert W.
Publicado 2013

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

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy

por Elwan, Menatalla, Schaefer, Andrew M, Craig, Kate, Hopton, Sila, Falkous, Gavin, Blakely, Emma L, Taylor, Robert W, Warren, Naomi
Publicado 2022

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

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

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

por 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.
Publicado 2019

Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability

por Moore, Heather L., Kelly, Thomas, Bright, Alexandra, Field, Robert H., Schaefer, Andrew M., Blain, Alasdair P., Taylor, Robert W., McFarland, Robert, Turnbull, Doug M., Gorman, Gráinne S.
Publicado 2019

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

por Sommerville, Ewen W., Jones, Rachel L., Hardy, Steven A., Blakely, Emma L., Pyle, Angela, Schaefer, Andrew M., Chinnery, Patrick F., Turnbull, Douglass M., Gorman, Gráinne S., Taylor, Robert W.
Publicado 2017

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

por 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.
Publicado 2020

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 2015

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

por Pickett, Sarah J., Grady, John P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., Wilson, Ian J., Cordell, Heather J., Turnbull, Doug M., Taylor, Robert W., McFarland, Robert
Publicado 2018

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

por Boal, Rachel L, Ng, Yi Shiau, Pickett, Sarah J, Schaefer, Andrew M, Feeney, Catherine, Bright, Alexandra, Taylor, Robert W, Turnbull, Doug M, Gorman, Grainne S, Cheetham, Tim, McFarland, Robert
Publicado 2018

Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls

por Erskine, Daniel, Reeve, Amy K., Polvikoski, Tuomo, Schaefer, Andrew M., Taylor, Robert W., Lax, Nichola Z., El-Agnaf, Omar, Attems, Johannes, Gorman, Gráinne S., Turnbull, Doug M., Ng, Yi Shau
Publicado 2019

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

por Baty, Karen, Farrugia, Maria E., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Stewart, William, Willison, Hugh J., Reilly, Mary M., Blakely, Emma L., Taylor, Robert W., Ng, Yi Shiau
Publicado 2021

Consensus-based statements for the management of mitochondrial stroke-like episodes

por Ng, Yi Shiau, Bindoff, Laurence A., Gorman, Gráinne S., Horvath, Rita, Klopstock, Thomas, Mancuso, Michelangelo, Martikainen, Mika H., Mcfarland, Robert, Nesbitt, Victoria, Pitceathly, Robert D. S., Schaefer, Andrew M., Turnbull, Doug M.
Publicado 2019

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 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 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 2016

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 2015

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

por Wesolowska, Maria, Gorman, Grainne S., Alston, Charlotte L., Pajak, Aleksandra, Pyle, Angela, He, Langping, Griffin, Helen, Chinnery, Patrick F., Miller, James A.L., Schaefer, Andrew M., Taylor, Robert W., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.
Publicado 2015