Teaching NeuroImages: Neuroradiologic evolution of Leigh disease

por Ng, Yi Shiau, Lim, Ming, Thomas, Gareth, McFarland, Robert
Publicado 2016

The genetic basis of isolated mitochondrial complex II deficiency

por Fullerton, Millie, McFarland, Robert, Taylor, Robert W., Alston, Charlotte L.
Publicado 2020

The molecular pathology of pathogenic mitochondrial tRNA variants

por Richter, Uwe, McFarland, Robert, Taylor, Robert W., Pickett, Sarah J.
Publicado 2021

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

por Yarham, John W., McFarland, Robert, Taylor, Robert W., Elson, Joanna L.
Publicado 2012

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

por Alston, Charlotte L., Blakely, Emma L., McFarland, Robert, Taylor, Robert W.
Publicado 2020

Current and Emerging Clinical Treatment in Mitochondrial Disease

por Tinker, Rory J., Lim, Albert Z., Stefanetti, Renae J., McFarland, Robert
Publicado 2021

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

Astrocytic pathology in Alpers’ syndrome

por Smith, Laura A, Chen, Chun, Lax, Nichola Z, Taylor, Robert W, Erskine, Daniel, McFarland, Robert
Publicado 2023

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

Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome

por Smith, Laura A., Erskine, Daniel, Blain, Alasdair, Taylor, Robert W., McFarland, Robert, Lax, Nichola Z.
Publicado 2022

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

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

por Wong, Wui‐Kwan, Balasubramaniam, Shanti, Wong, Rachel S. H., Graf, Nicole, Thorburn, David R., McFarland, Robert, Troedson, Christopher
Publicado 2022

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

por Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Publicado 2012

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

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

por Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Publicado 2016

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

por Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
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

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

por Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
Publicado 2018

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease

por Yarham, John W., Blakely, Emma L., Alston, Charlotte L., Roberts, Mark E., Ealing, John, Pal, Piyali, Turnbull, Douglass M., McFarland, Robert, Taylor, Robert W.
Publicado 2013