Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

by Jethwa, Hannah, Jacques, Thomas S, Gunny, Roxanna, Wedderburn, Lucy R, Pilkington, Clarissa, Manzur, Adnan Y
Published 2013

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

by Wedatilake, Yehani, Plagnol, Vincent, Anderson, Glenn, Paine, Simon M. L., Clayton, Peter T., Jacques, Thomas S., Rahman, Shamima
Published 2015

A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II

by Shepherd, Caterina, Liu, Joan, Goc, Joanna, Martinian, Lillian, Jacques, Thomas S, Sisodiya, Sanjay M, Thom, Maria
Published 2013

Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI

by Kinsler, Veronica A., Paine, Simon M. L., Anderson, Glenn W., Wijesekara, D. Saraji, Sebire, Neil J., Chong, Wui K., Harkness, William, Aylett, Sarah E., Jacques, Thomas S.
Published 2012

Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma

by Andoniadou, Cynthia L., Gaston-Massuet, Carles, Reddy, Rukmini, Schneider, Ralph P., Blasco, Maria A., Le Tissier, Paul, Jacques, Thomas S., Pevny, Larysa H., Dattani, Mehul T., Martinez-Barbera, Juan Pedro
Published 2012

Challenges for the functional diffusion map in pediatric brain tumors

by Grech-Sollars, Matthew, Saunders, Dawn E., Phipps, Kim P., Kaur, Ramneek, Paine, Simon M.L., Jacques, Thomas S., Clayden, Jonathan D., Clark, Chris A.
Published 2014

Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion

by Apps, John R., Hutchinson, J. Ciaran, Arthurs, Owen J., Virasami, Alex, Joshi, Abhijit, Zeller-Plumhoff, Berit, Moulding, Dale, Jacques, Thomas S., Sebire, Neil J., Martinez-Barbera, Juan Pedro
Published 2016

Tubuloreticular inclusions in juvenile dermatomyositis: a diagnostically useful marker?

by Yasin, Shireena A, Sag, Erdal, Arnold, Katie, Anderson, Glenn, Pilkington, Clarissa, Paine, Simon ML, Holton, Janice L, Wedderburn, Lucy R, Jacques, Thomas S
Published 2014

Sub-phenotyping of juvenile dermatomyositis: can it assist clinical decisions?

by Yasin, Shireena A, Arnold, Katie, Sag, Erdal, Tansley, Sarah, Moraitis, Elena, Jacques, Thomas S, Holton, Janice L, Owens, Catherine, McHugh, Neil, Pilkington, Clarissa, Wedderburn, Lucy R
Published 2014

Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study

by Tansley, Sarah L, Betteridge, Zoe E, Gunawardena, Harsha, Jacques, Thomas S, Owens, Catherine M, Pilkington, Clarissa, Arnold, Katie, Yasin, Shireena, Moraitis, Elena, Wedderburn, Lucy R, McHugh, Neil J
Published 2014

Molecular analysis of pediatric brain tumors identifies microRNAs in pilocytic astrocytomas that target the MAPK and NF-κB pathways

by Jones, Tania A., Jeyapalan, Jennie N., Forshew, Tim, Tatevossian, Ruth G., Lawson, Andrew R. J., Patel, Sheena N., Doctor, Gabriel T., Mumin, Muhammad A., Picker, Simon R., Phipps, Kim P., Michalski, Antony, Jacques, Thomas S., Sheer, Denise
Published 2015

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

by 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
Published 2016

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

by Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
Published 2011

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

by Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L., Jacques, Thomas S., Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J., Kohlhase, Jürgen, Nischal, Ken K., Sowden, Jane C.
Published 2014

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

by Reid, Emma S., Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W., Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S., Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M., Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Published 2016

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease

by Varsani, Hemlata, Charman, Susan C, Li, Charles K, Marie, Suely K N, Amato, Anthony A, Banwell, Brenda, Bove, Kevin E, Corse, Andrea M, Emslie-Smith, Alison M, Jacques, Thomas S, Lundberg, Ingrid E, Minetti, Carlo, Nennesmo, Inger, Rushing, Elisabeth J, Sallum, Adriana M E, Sewry, Caroline, Pilkington, Clarissa A, Holton, Janice L, Wedderburn, Lucy R
Published 2015

Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients

by Brown, Julianne R., Morfopoulou, Sofia, Hubb, Jonathan, Emmett, Warren A., Ip, Winnie, Shah, Divya, Brooks, Tony, Paine, Simon M. L., Anderson, Glenn, Virasami, Alex, Tong, C. Y. William, Clark, Duncan A., Plagnol, Vincent, Jacques, Thomas S., Qasim, Waseem, Hubank, Mike, Breuer, Judith
Published 2015

Molecular, pathological, radiological, and immune profiling of non-brainstem pediatric high-grade glioma from the HERBY phase II randomized trial

by Mackay, Alan, Burford, Anna, Molinari, Valeria, Jones, David T.W., Izquierdo, Elisa, Brouwer-Visser, Jurriaan, Giangaspero, Felice, Haberler, Christine, Pietsch, Torsten, Jacques, Thomas S., Figarella-Branger, Dominique, Rodriguez, Daniel, Morgan, Paul S., Raman, Pichai, Waanders, Angela J., Resnick, Adam C., Massimino, Maura, Garrè, Maria Luisa, Smith, Helen, Capper, David, Pfister, Stefan M., Würdinger, Thomas, Tam, Rachel, Garcia, Josep, Thakur, Meghna Das, Vassal, Gilles, Grill, Jacques, Jaspan, Tim, Varlet, Pascale, Jones, Chris
Published 2018

Highlights of children with Cancer UK’s workshop on drug delivery in paediatric brain tumours

by Nailor, Audrey, Walker, David A., Jacques, Thomas S., Warren, Kathy E., Brem, Henry, Kearns, Pamela R., Greenwood, John, Penny, Jeffrey I., Pilkington, Geoffrey J., Carcaboso, Angel M., Fleischhack, Gudrun, Macarthur, Donald, Slavc, Irene, Meijer, Lisethe, Gill, Steven, Lowis, Stephen, van Vuurden, Dannis G., Pearl, Monica S., Clifford, Steven C., Morrissy, A. Sorana, Ivanov, Delyan P., Beccaria, Kévin, Gilbertson, Richard J., Straathof, Karin, Green, Jordan J., Smith, Stuart, Rahman, Ruman, Kilday, John-Paul
Published 2016

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

by Eggens, Veerle RC, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James AR, O’Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles BLM, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank
Published 2014