Works matching AU Jacques, Thomas S.

Results: 80

Multiphasic presentation of Rasmussen's encephalitis.

Published in:

Epileptic Disorders, 2015, v. 17, n. 3, p. 315, doi. 10.1684/epd.2015.0756

By:

Avberšek, Andreja;
Miserocchi, Anna;
McEvoy, Andrew W.;
Patel, Ayesha V.;
Aronica, Eleonora;
Blümcke, Ingmar;
Jacques, Thomas S.;
Acheson, James;
Thom, Maria;
Sisodiya, Sanjay M.

Publication type:

Article

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1144, doi. 10.1002/humu.21550

By:

Kelberman, Daniel;
Islam, Lily;
Holder, Susan E.;
Jacques, Thomas S.;
Calvas, Patrick;
Hennekam, Raoul C.;
Nischal, Ken K.;
Sowden, Jane C.

Publication type:

Article

Brain weight in sudden unexpected death in infancy: experience from a large single-centre cohort.

Published in:

Neuropathology & Applied Neurobiology, 2016, v. 42, n. 4, p. 344, doi. 10.1111/nan.12251

By:

Bamber, Andrew R.;
Paine, Simon M. L.;
Ridout, Deborah A.;
Pryce, Jeremy W.;
Jacques, Thomas S.;
Sebire, Neil J.

Publication type:

Article

Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 6, p. 832, doi. 10.1111/nan.12257

By:

Angelini, Paola;
Chalker, Jane;
Austin, Nicola;
Hing, Sandra;
Paine, Simon M.L.;
Mankad, Kshitij;
Hargrave, Darren;
Jacques, Thomas S.

Publication type:

Article

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

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 399, doi. 10.1111/nan.12190

By:

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

Publication type:

Article

Characterization of a population of neural progenitor cells in the infant hippocampus.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 5, p. 544, doi. 10.1111/nan.12065

By:

Paine, Simon M. L.;
Willsher, Alex R.;
Nicholson, Sarah L.;
Sebire, Neil J.;
Jacques, Thomas S.

Publication type:

Article

Review: Neuropathological features of unexplained sudden unexpected death in infancy: current evidence and controversies.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 4, p. 364, doi. 10.1111/nan.12095

By:

Paine, Simon ML;
Jacques, Thomas S;
Sebire, Neil J

Publication type:

Article

Developmental delay and progressive seizures in 2‐month‐old child with diffuse MRI abnormalities.

Published in:

Brain Pathology, 2022, v. 32, n. 4, p. 1, doi. 10.1111/bpa.13049

By:

Mateos, Marion K;
Birdi, Nikhil;
Basu, Anna P.;
Wright, Michael;
Joshi, Abhijit;
Annavarapu, Srinivas;
Jacques, Thomas S.;
Mitra, Dipayan;
Bailey, Simon

Publication type:

Article

Genotype‐phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.

Published in:

Brain Pathology, 2019, v. 29, n. 4, p. 473, doi. 10.1111/bpa.12686

By:

Benova, Barbora;
Jacques, Thomas S.

Publication type:

Article

Preclinical transgenic and patient‐derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma.

Published in:

Brain Pathology, 2018, v. 28, n. 4, p. 475, doi. 10.1111/bpa.12525

By:

Boult, Jessica K. R.;
Apps, John R.;
Hölsken, Annett;
Hutchinson, J. Ciaran;
Carreno, Gabriela;
Danielson, Laura S.;
Smith, Laura M.;
Bäuerle, Tobias;
Buslei, Rolf;
Buchfelder, Michael;
Virasami, Alex K.;
Koers, Alexander;
Arthurs, Owen J.;
Jacques, Thomas S.;
Chesler, Louis;
Martinez‐Barbera, Juan Pedro;
Robinson, Simon P.

Publication type:

Article

The immune environment of paediatric solid malignancies: evidence from an immunohistochemical study of clinical cases.

Published in:

Fetal & Pediatric Pathology, 2013, v. 32, n. 4, p. 298, doi. 10.3109/15513815.2012.754527

By:

Apps, John R.;
Hasan, Fyeza;
Campus, Oliver;
Behjati, Sam;
Jacques, Thomas S.;
J. Sebire, Neil;
Anderson, John

Publication type:

Article

DISSEMINATED LANGERHANS CELL HISTIOCYTOSIS-RELATED SUDDEN UNEXPECTED DEATH IN INFANCY.

Published in:

Fetal & Pediatric Pathology, 2009, v. 28, n. 1, p. 39, doi. 10.1080/15513810802548099

By:

Trotz, Max;
Weber, Martin A.;
Jacques, Thomas S.;
Malone, Marian;
Sebire, Neil J.

Publication type:

Article

Real-time quantitative PCR analysis of pediatric ependymomas identifies novel candidate genes including TPR at 1q25 and CHIBBY at 22q12-q13.

Published in:

Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 1005, doi. 10.1002/gcc.20607

By:

Karakoula, Katherine;
Suarez-Merino, Blanca;
Ward, Samantha;
Phipps, Kim P.;
Harkness, William;
Hayward, Richard;
Thompson, Dominic;
Jacques, Thomas S.;
Harding, Brian;
Beck, John;
Thomas, David G. T.;
Warr, Tracy J.

Publication type:

Article

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Published in:

Movement Disorders, 2012, v. 27, n. 2, p. 312, doi. 10.1002/mds.24029

By:

Winder-Rhodes, Sophie E.;
Garcia-Reitböck, Pablo;
Ban, Maria;
Evans, Jonathan R.;
Jacques, Thomas S.;
Kemppinen, Anu;
Foltynie, Thomas;
Williams-Gray, Caroline H.;
Chinnery, Patrick F.;
Hudson, Gavin;
Burn, David J.;
Allcock, Liesl M.;
Sawcer, Stephen J.;
Barker, Roger A.;
Spillantini, Maria Grazia

Publication type:

Article

Histologically defined central nervous system primitive neuro-ectodermal tumours (CNS-PNETs) display heterogeneous DNA methylation profiles and show relationships to other paediatric brain tumour types.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 6, p. 943, doi. 10.1007/s00401-013-1206-6

By:

Schwalbe, Ed. C.;
Hayden, James T.;
Rogers, Hazel A.;
Miller, Suzanne;
Lindsey, Janet C.;
Hill, Rebecca M.;
Nicholson, Sarah-Leigh;
Kilday, John-Paul;
Adamowicz-Brice, Martyna;
Storer, Lisa;
Jacques, Thomas S.;
Robson, Keith;
Lowe, Jim;
Williamson, Daniel;
Grundy, Richard G.;
Bailey, Simon;
Clifford, Steven C.

Publication type:

Article

RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort.

Published in:

Acta Neuropathologica, 2010, v. 120, n. 2, p. 271, doi. 10.1007/s00401-010-0693-y

By:

Lawson, Andrew R. J.;
Tatevossian, Ruth G.;
Phipps, Kim P.;
Picker, Simon R.;
Michalski, Antony;
Sheer, Denise;
Jacques, Thomas S.;
Forshew, Tim

Publication type:

Article

Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell.

Published in:

Acta Neuropathologica, 2010, v. 120, n. 1, p. 85, doi. 10.1007/s00401-010-0677-y

By:

Yasin, Shireena A.;
Latak, Kate;
Becherini, Francesca;
Ganapathi, Anita;
Miller, Khadijah;
Campos, Oliver;
Picker, Simon R.;
Bier, Nelly;
Smith, Martin;
Thom, Maria;
Anderson, Glenn;
Helen Cross, J.;
Harkness, William;
Harding, Brian;
Jacques, Thomas S.

Publication type:

Article

Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis.

Published in:

Arthritis & Rheumatology, 2016, v. 68, n. 11, p. 2806, doi. 10.1002/art.39753

By:

Deakin, Claire T.;
Yasin, Shireena A.;
Simou, Stefania;
Arnold, Katie A.;
Tansley, Sarah L.;
Betteridge, Zoe E.;
McHugh, Neil J.;
Varsani, Hemlata;
Holton, Janice L.;
Jacques, Thomas S.;
Pilkington, Clarissa A.;
Nistala, Kiran;
Wedderburn, Lucy R.;
Armon, Kate;
Ellis‐Gage, Joe;
Roper, Holly;
Briggs, Vanja;
Watts, Joanna;
McCann, Liza;
Roberts, Ian

Publication type:

Article

Decision making for health‐related research outcomes that alter diagnosis: A model from paediatric brain tumours.

Published in:

Neuropathology & Applied Neurobiology, 2024, v. 50, n. 4, p. 1, doi. 10.1111/nan.12994

By:

Pickles, Jessica C.;
Aquilina, Kristian;
Chalker, Jane;
Dahl, Christine;
Devadass, Abel;
Mankad, Kshitij;
Merve, Ashirwad;
Ahmed, Munaza;
Nicoll, James A. R.;
Bloom, Tabitha;
Hilton, David A.;
Sebire, Neil J.;
Hargrave, Darren;
Jacques, Thomas S.

Publication type:

Article

Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics.

Published in:

Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 736, doi. 10.1111/nan.12716

By:

Crosier, Stephen;
Hicks, Debbie;
Schwalbe, Edward C.;
Williamson, Daniel;
Leigh Nicholson, Sarah;
Smith, Amanda;
Lindsey, Janet C.;
Michalski, Antony;
Pizer, Barry;
Bailey, Simon;
Bown, Nick;
Cuthbert, Gavin;
Wharton, Stephen B.;
Jacques, Thomas S.;
Joshi, Abhijit;
Clifford, Steven C.

Publication type:

Article

Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis.

Published in:

Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 781, doi. 10.1111/nan.12715

By:

Li, Yao‐Feng;
Scerif, Fatma;
Picker, Simon R.;
Stone, Thomas J.;
Pickles, Jessica C.;
Moulding, Dale A.;
Avery, Aimee;
Virasami, Alex;
Fairchild, Amy R.;
Tisdall, Martin;
Harkness, William;
Cross, J Helen;
Hargrave, Darren;
Guillemot, Francois;
Paine, Simon M.;
Yasin, Shireena A.;
Jacques, Thomas S.

Publication type:

Article

A rare case of paediatric astroblastoma with concomitant MN1‐GTSE1 and EWSR1‐PATZ1 gene fusions altering management.

Published in:

Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 882, doi. 10.1111/nan.12701

By:

Chadda, Karan R.;
Holland, Katherine;
Scoffings, Daniel;
Dean, Andrew;
Pickles, Jessica C.;
Behjati, Sam;
Jacques, Thomas S.;
Trotman, Jamie;
Tarpey, Patrick;
Allinson, Kieren;
Murray, Matthew J.

Publication type:

Article

A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups.

Published in:

2020

By:

Ritzmann, Timothy A.;
Rogers, Hazel A.;
Paine, Simon M.L.;
Storer, Lisa C.D.;
Jacques, Thomas S.;
Chapman, Rebecca J.;
Ellison, David;
Donson, Andrew M.;
Foreman, Nicholas K.;
Grundy, Richard G.

Publication type:

journal article

Childhood neoplasms presenting at autopsy: A 20-year experience.

Published in:

2017

By:

Bryant, Victoria A.;
Booth, John;
Palm, Liina;
Ashworth, Michael;
Jacques, Thomas S.;
Sebire, Neil J.

Publication type:

journal article

Seizure outcome after extratemporal epilepsy surgery in childhood.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 995, doi. 10.1111/j.1469-8749.2012.04381.x

By:

D'ARGENZIO, LUIGI;
COLONNELLI, M CHIARA;
HARRISON, SUE;
JACQUES, THOMAS S;
HARKNESS, WILLIAM;
SCOTT, ROD C;
CROSS, J HELEN

Publication type:

Article

Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.

Published in:

Child's Nervous System, 2024, v. 40, n. 10, p. 3189, doi. 10.1007/s00381-024-06591-6

By:

Stone, Thomas J.;
Merve, Ashirwad;
Valerio, Fernanda;
Yasin, Shireena A.;
Jacques, Thomas S.

Publication type:

Article

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

Published in:

Child's Nervous System, 2021, v. 37, n. 7, p. 2375, doi. 10.1007/s00381-020-04986-9

By:

Chhabda, Sahil;
Sudhakar, Sniya;
Mankad, Kshitij;
Jorgensen, Mette;
Carceller, Fernando;
Jacques, Thomas S.;
Merve, Ashirwad;
Aizpurua, Miren;
Chalker, Jane;
Garimberti, Elisa;
D'Arco, Felice

Publication type:

Article

Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy.

Published in:

2023

By:

Chadda, Karan R;
Solano-Páez, Palma;
Khan, Sara;
Llempén-López, Mercedes;
Phyu, Poe;
Horan, Gail;
Trotman, Jamie;
Tarpey, Patrick;
Erker, Craig;
Lindsay, Holly;
Addy, Dilys;
Jacques, Thomas S;
Allinson, Kieren;
Pizer, Barry;
Huang, Annie;
Murray, Matthew J

Publication type:

Case Study

Toward standardized brain tumor tissue processing protocols in neuro-oncology: a perspective for gliomas and beyond.

Published in:

Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1471257

By:

Rodriguez, Analiz;
Ahluwalia, Manmeet S.;
Bettegowda, Chetan;
Brem, Henry;
Carter, Bob S.;
Chang, Susan;
Das, Sunit;
Eberhart, Charles;
Garzon-Muvdi, Tomas;
Hadjipanayis, Costas G.;
Hawkins, Cynthia;
Jacques, Thomas S.;
Khalessi, Alexander A.;
McDermott, Michael W.;
Mikkelsen, Tom;
Orr, Brent A.;
Phillips, Joanna J.;
Rosenblum, Mark;
Shelton, William J.;
Solomon, David A.

Publication type:

Article

Mature Orbital Teratoma Presenting as a Recurrent Orbital Cellulitis with an Ectopic Tooth and Sphenoid Malformation—A Case Report.

Published in:

Orbit, 2008, v. 27, n. 4, p. 309, doi. 10.1080/01676830802222902

By:

Hassan, H. Mohammed J.;
Mc Andrew, Philip T.;
Yagan, Ali;
Jacques, Thomas S.;
Hayward, Richard

Publication type:

Article

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 580, doi. 10.1093/hmg/ddac225

By:

Ververi, Athina;
Zagaglia, Sara;
Menzies, Lara;
Baptista, Julia;
Caswell, Richard;
Baulac, Stephanie;
Ellard, Sian;
Lynch, Sally;
Consortium, Genomics England Research;
Jacques, Thomas S;
Chawla, Maninder Singh;
Heier, Martin;
Kulseth, Mari Ann;
Mero, Inger-Lise;
Våtevik, Anne Katrine;
Kraoua, Ichraf;
Rhouma, Hanene Ben;
Younes, Thouraya Ben;
Miladi, Zouhour;
Turki, Ilhem Ben Youssef

Publication type:

Article

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2511, doi. 10.1093/hmg/ddt643

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.

Publication type:

Article

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

Published in:

2015

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

Publication type:

Case Study

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Published in:

2017

By:

Manole, Andreea;
Jaunmuktane, Zane;
Hargreaves, Iain;
Ludtmann, Marthe H. R.;
Salpietro, Vincenzo;
Bello, Oscar D.;
Pope, Simon;
Pandraud, Amelie;
Horga, Alejandro;
Scalco, Renata S.;
Abi Li;
Ashokkumar, Balasubramaniem;
Lourenc, Charles M.;
Heales, Simon;
Horvath, Rita;
Chinnery, Patrick F.;
Toro, Camilo;
Singleton, Andrew B.;
Jacques, Thomas S.;
Abramov, Andrey Y.

Publication type:

journal article

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

Published in:

2016

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.

Publication type:

journal article

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Published in:

2015

By:

Shahni, Rojeen;
Cale, Catherine M.;
Anderson, Glenn;
Osellame, Laura D.;
Hambleton, Sophie;
Jacques, Thomas S.;
Wedatilake, Yehani;
Taanman, Jan-Willem;
Chan, Emma;
Qasim, Waseem;
Plagnol, Vincent;
Chalasani, Annapurna;
Duchen, Michael R.;
Gilmour, Kimberly C.;
Rahman, Shamima

Publication type:

journal article

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1578, doi. 10.1093/brain/awt073

By:

McTague, Amy;
Appleton, Richard;
Avula, Shivaram;
Cross, J. Helen;
King, Mary D.;
Jacques, Thomas S.;
Bhate, Sanjay;
Cronin, Anthony;
Curran, Andrew;
Desurkar, Archana;
Farrell, Michael A.;
Hughes, Elaine;
Jefferson, Rosalind;
Lascelles, Karine;
Livingston, John;
Meyer, Esther;
McLellan, Ailsa;
Poduri, Annapurna;
Scheffer, Ingrid E.;
Spinty, Stefan

Publication type:

Article

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. 2506, doi. 10.1093/brain/aws172

By:

Munot, Pinki;
Saunders, Dawn E.;
Milewicz, Dianna M.;
Regalado, Ellen S.;
Ostergaard, John R.;
Braun, Kees P.;
Kerr, Timothy;
Lichtenbelt, Klaske D.;
Philip, Sunny;
Rittey, Christopher;
Jacques, Thomas S.;
Cox, Timothy C.;
Ganesan, Vijeya

Publication type:

Article

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

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 10, p. 2982, doi. 10.1093/brain/awr129

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

Publication type:

Article

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

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0321-8

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

Publication type:

Article

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

Published in:

Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0266-3

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

Publication type:

Article

Stem cell senescence drives age-attenuated induction of pituitary tumours in mouse models of paediatric craniopharyngioma.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01992-5

By:

Gonzalez-Meljem, Jose Mario;
Haston, Scott;
Carreno, Gabriela;
Apps, John R.;
Pozzi, Sara;
Stache, Christina;
Kaushal, Grace;
Virasami, Alex;
Panousopoulos, Leonidas;
Mousavy-Gharavy, Seyedeh Neda;
Guerrero, Ana;
Rashid, Mamunur;
Jani, Nital;
Goding, Colin R.;
Jacques, Thomas S.;
Adams, David J.;
Gil, Jesus;
Andoniadou, Cynthia L.;
Martinez-Barbera, Juan Pedro

Publication type:

Article

Cortical laminar necrosis mimicking leptomeningeal recurrence in a child with medulloblastoma and epilepsy.

Published in:

Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30641

By:

Mironova, Denitza;
Benjamin, Philip;
Zacharoulis, Stergios;
Stapleton, Simon;
Bridges, Leslie R.;
Jacques, Thomas S.;
Mandeville, Henry;
Carceller, Fernando

Publication type:

Article

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

Published in:

Annals of Neurology, 2005, v. 58, n. 3, p. 411

By:

Peter P. Pramstaller;
Michael G. Schlossmacher;
Thomas S. Jacques;
Francesco Scaravilli;
Cordula Eskelson;
Imelda Pepivani;
Katja Hedrich;
Susanna Adel;
Melissa Gonzales‐McNeal;
Rüdiger Hilker;
Patricia L. Kramer;
Christine Klein

Publication type:

Article

Cytogenetic analysis of paediatric astrocytoma using comparative genomic hybridisation and fluorescence in-situ hybridisation.

Published in:

Journal of Neuro-Oncology, 2010, v. 98, n. 3, p. 305, doi. 10.1007/s11060-009-0081-4

By:

Ward, Samantha J.;
Karakoula, Katherine;
Phipps, Kim P.;
Harkness, William;
Hayward, Richard;
Thompson, Dominic;
Jacques, Thomas S.;
Harding, Brian;
Darling, John L.;
Thomas, David G. T.;
Warr, Tracy J.

Publication type:

Article

Free virtual issue: Novel paradigms for inborn errors with muscular and central neuropathology.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 903, doi. 10.1002/jimd.12299

By:

Morava, Eva;
Jacques, Thomas S.

Publication type:

Article

Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18070-y

By:

Grabovska, Yura;
Mackay, Alan;
O'Hare, Patricia;
Crosier, Stephen;
Finetti, Martina;
Schwalbe, Edward C.;
Pickles, Jessica C.;
Fairchild, Amy R.;
Avery, Aimee;
Cockle, Julia;
Hill, Rebecca;
Lindsey, Janet;
Hicks, Debbie;
Kristiansen, Mark;
Chalker, Jane;
Anderson, John;
Hargrave, Darren;
Jacques, Thomas S.;
Straathof, Karin;
Bailey, Simon

Publication type:

Article

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31

By:

Scoto, Mariacristina;
Cullup, Thomas;
Cirak, Sebahattin;
Yau, Shu;
Manzur, Adnan Y;
Feng, Lucy;
Jacques, Thomas S;
Anderson, Glenn;
Abbs, Stephen;
Sewry, Caroline;
Jungbluth, Heinz;
Muntoni, Francesco

Publication type:

Article

Anti-HMGCR Autoantibodies in Juvenile Idiopathic Inflammatory Myopathies Identify a Rare but Clinically Important Subset of Patients.

Published in:

2017

By:

Tansley, Sarah L.;
Betteridge, Zoe E.;
Simou, Stefania;
Jacques, Thomas S.;
Pilkington, Clarissa;
Wood, Mark;
Warrier, Kishore;
Wedderburn, Lucy R.;
McHugh, Neil J.;
Juvenile Dermatomyositis Research Group

Publication type:

journal article

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Published in:

2018

By:

Al-Olabi, Lara;
Polubothu, Satyamaanasa;
Dowsett, Katherine;
Andrews, Katrina A;
Stadnik, Paulina;
Joseph, Agnel P;
Knox, Rachel;
Pittman, Alan;
Clark, Graeme;
Baird, William;
Bulstrode, Neil;
Glover, Mary;
Gordon, Kristiana;
Hargrave, Darren;
Huson, Susan M;
Jacques, Thomas S;
James, Gregory;
Kondolf, Hannah;
Kangesu, Loshan;
Keppler-Noreuil, Kim M

Publication type:

journal article