Designing clinical trials for rare diseases: unique challenges and opportunities

por Pizzamiglio, Chiara, Vernon, Hilary J., Hanna, Michael G., Pitceathly, Robert D. S.
Publicado no Nat Rev Methods Primers (2022)

Muscle MRI in Bethlem myopathy

por Morrow, Jasper M, Pitceathly, Robert D S, Quinlivan, Ros M, Yousry, Tarek A
Publicado em 2013

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 no BMC Nephrol (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 no J Mol Neurosci (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 no J Mol Neurosci (2020)

Cardiolipin, Mitochondria, and Neurological Disease

por Falabella, Micol, Vernon, Hilary J., Hanna, Michael G., Claypool, Steven M., Pitceathly, Robert D.S.
Publicado no Trends Endocrinol Metab (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 em 2014

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 no Trends Analyt Chem (2022)

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 no Neuromuscul Disord (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 no Neurol Genet (2020)

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 no Wellcome Open Res (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 no Brain (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 no J Clin Med (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 no Eur Radiol (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 no PLoS One (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 no J Med Internet Res (2021)

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

por Holmes, Sarah, Male, Amanda J, Ramdharry, Gita, Woodward, Cathy, James, Natalie, Skorupinska, Iwona, Skorupinska, Mariola, Germain, Louise, Kozyra, Damian, Bugiardini, Enrico, Poole, Olivia V, Quinlivan, Ros, Hanna, Michael G, Kaski, Diego, Pitceathly, Robert D S
Publicado no J Neurol Neurosurg Psychiatry (2019)

Toward a mtDNA Locus-Specific Mutation Database Using the LOVD Platform

por Elson, Joanna L., Sweeney, Mary G., Procaccio, Vincent, Yarham, John W., Salas, Antonio, Kong, Qing-Peng, van der Westhuizen, Francois H., Pitceathly, Robert D.S., Thorburn, David R., Lott, Marie T., Wallace, Douglas C., Taylor, Robert W., McFarland, Robert
Publicado no Hum Mutat (2012)

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

por Akman, Gokhan, Desai, Radha, Bailey, Laura J., Yasukawa, Takehiro, Dalla Rosa, Ilaria, Durigon, Romina, Holmes, J. Bradley, Moss, Chloe F., Mennuni, Mara, Houlden, Henry, Crouch, Robert J., Hanna, Michael G., Pitceathly, Robert D. S., Spinazzola, Antonella, Holt, Ian J.
Publicado no Proc Natl Acad Sci U S A (2016)

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado em 2013