Muscle MRI in Bethlem myopathy

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

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

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)

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)

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

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

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Por Tucci, Arianna, Liu, Yo-Tsen, Preza, Elisabeth, Pitceathly, Robert D S, Chalasani, Annapurna, Plagnol, Vincent, Land, John M, Trabzuni, Daniah, Ryten, Mina, Jaunmuktane, Zane, Reilly, Mary M, Brandner, Sebastian, Hargreaves, Iain, Hardy, John, Singleton, Andrew B, Abramov, Andrey Y, Houlden, Henry
Publicado em 2014

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Por Pitceathly, Robert D.S., Murphy, Sinéad M., Cottenie, Ellen, Chalasani, Annapurna, Sweeney, Mary G., Woodward, Cathy, Mudanohwo, Ese E., Hargreaves, Iain, Heales, Simon, Land, John, Holton, Janice L., Houlden, Henry, Blake, Julian, Champion, Michael, Flinter, Frances, Robb, Stephanie A., Page, Rupert, Rose, Michael, Palace, Jacqueline, Crowe, Carol, Longman, Cheryl, Lunn, Michael P., Rahman, Shamima, Reilly, Mary M., Hanna, Michael G.
Publicado em 2012

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Por Bugiardini, Enrico, Poole, Olivia V., Manole, Andreea, Pittman, Alan M., Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Holton, Janice L., Taanman, Jan-Willem, Plant, Gordon T., Poulton, Joanna, Zeviani, Massimo, Ghezzi, Daniele, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A., Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J., Houlden, Henry, Hanna, Michael G., Pitceathly, Robert D.S.
Publicado no Neurol Genet (2017)

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Por Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Publicado em 2012