Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

por Pitceathly, Robert DS, Viscomi, Carlo
Publicado 2016

Moving towards clinical trials for mitochondrial diseases

por Pitceathly, Robert D.S., Keshavan, Nandaki, Rahman, Joyeeta, Rahman, Shamima
Publicado 2020

Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

por Roper, Tayeba, Harber, Mark, Jones, Gareth, Pitceathly, Robert D. S., Salama, Alan D.
Publicado 2020

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

por Paramasivam, Arumugam, Meena, Angamuthu K., Venkatapathi, Challa, Pitceathly, Robert D.S., Thangaraj, Kumarasamy
Publicado 2020

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

por Paramasivam, Arumugam, Meena, Angamuthu K., Venkatapathi, Challa, Pitceathly, Robert D. S., Thangaraj, Kumarasamy
Publicado 2020

Cardiolipin, Mitochondria, and Neurological Disease

por Falabella, Micol, Vernon, Hilary J., Hanna, Michael G., Claypool, Steven M., Pitceathly, Robert D.S.
Publicado 2021

Mitochondrial Strokes: Diagnostic Challenges and Chameleons

por Pizzamiglio, Chiara, Bugiardini, Enrico, Macken, William L., Woodward, Cathy E., Hanna, Michael G., Pitceathly, Robert D. S.
Publicado 2021

Whole-genome sequencing and the clinician: a tale of two cities

por Foley, A Reghan, Pitceathly, Robert D S, He, Jie, Kim, Jihee, Pearson, Nathaniel M, Muntoni, Francesco, Hanna, Michael G
Publicado 2014

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

Advances in methods to analyse cardiolipin and their clinical applications

por Bautista, Javier S., Falabella, Micol, Flannery, Padraig J., Hanna, Michael G., Heales, Simon J.R., Pope, Simon A.S., Pitceathly, Robert D.S.
Publicado 2022

Rhabdomyolysis: a genetic perspective

por Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros
Publicado 2015

Chronic pain is common in mitochondrial disease

por van den Ameele, Jelle, Fuge, Joshua, Pitceathly, Robert D.S., Berry, Sarah, McIntyre, Zoe, Hanna, Michael G., Lee, Michael, Chinnery, Patrick F.
Publicado 2020

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant

por Poole, Olivia V., Horga, Alejandro, Hardy, Steven A., Bugiardini, Enrico, Woodward, Cathy E., Hargreaves, Iain P., Merve, Ashirwad, Quinlivan, Rosaline, Taylor, Robert W., Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2020

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

por Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin
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

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

por Horga, Alejandro, Pitceathly, Robert D. S., Blake, Julian C., Woodward, Catherine E., Zapater, Pedro, Fratter, Carl, Mudanohwo, Ese E., Plant, Gordon T., Houlden, Henry, Sweeney, Mary G., Hanna, Michael G., Reilly, Mary M.
Publicado 2014

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

por Bugiardini, Enrico, Pope, Simon, Feichtinger, René G., Poole, Olivia V., Pittman, Alan M., Woodward, Cathy E., Heales, Simon, Quinlivan, Rosaline, Houlden, Henry, Mayr, Johannes A., Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2019

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

por Pitceathly, Robert D. S., Morrow, Jasper M., Sinclair, Christopher D. J., Woodward, Cathy, Sweeney, Mary G., Rahman, Shamima, Plant, Gordon T., Ali, Nadeem, Bremner, Fion, Davagnanam, Indran, Yousry, Tarek A., Hanna, Michael G., Thornton, John S.
Publicado 2015

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

por Rajakulendran, Sanjeev, Pitceathly, Robert D. S., Taanman, Jan-Willem, Costello, Harry, Sweeney, Mary G., Woodward, Cathy E., Jaunmuktane, Zane, Holton, Janice L., Jacques, Thomas S., Harding, Brian N., Fratter, Carl, Hanna, Michael G., Rahman, Shamima
Publicado 2016

Use of Twitter in Neurology: Boon or Bane?

por Mishra, Biswamohan, Saini, Monica, Doherty, Carolynne M, Pitceathly, Robert D S, Rajan, Roopa, Siddiqi, Omar K, Ramdharry, Gita, Asranna, Ajay, Tomaselli, Pedro Jose, Kermode, Allan G, Bajwa, Jawad A, Garg, Divyani, Vishnu, Venugopalan Y
Publicado 2021