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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
Methylation-based algorithms for diagnosis: experience from neuro-oncology.
Published in:
Journal of Pathology, 2020, v. 250, n. 5, p. 510, doi. 10.1002/path.5397
By:
- Pickles, Jessica C.;
- Stone, Thomas J.;
- Jacques, Thomas S.
Publication type:
Article
Methylation‐based algorithms for diagnosis: experience from neuro‐oncology.
Published in:
Journal of Pathology, 2020, v. 250, n. 4, p. 510, doi. 10.1002/path.5397
By:
- Pickles, Jessica C;
- Stone, Thomas J;
- Jacques, Thomas S
Publication type:
Article
International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: A Task Force report from the ILAE Commission on Diagnostic Methods.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1315, doi. 10.1111/epi.12220
By:
- Blümcke, Ingmar;
- Thom, Maria;
- Aronica, Eleonora;
- Armstrong, Dawna D.;
- Bartolomei, Fabrice;
- Bernasconi, Andrea;
- Bernasconi, Neda;
- Bien, Christian G.;
- Cendes, Fernando;
- Coras, Roland;
- Cross, J. Helen;
- Jacques, Thomas S.;
- Kahane, Philippe;
- Mathern, Gary W.;
- Miyata, Haijme;
- Moshé, Solomon L.;
- Oz, Buge;
- Özkara, Çiğdem;
- Perucca, Emilio;
- Sisodiya, Sanjay
Publication type:
Article
A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 5, p. 898, doi. 10.1111/epi.12143
By:
- Shepherd, Caterina;
- Liu, Joan;
- Goc, Joanna;
- Martinian, Lillian;
- Jacques, Thomas S.;
- Sisodiya, Sanjay M.;
- Thom, Maria
Publication type:
Article
Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1341, doi. 10.1111/j.1528-1167.2012.03508.x
By:
- Coras, Roland;
- de Boer, Onno J.;
- Armstrong, Dawna;
- Becker, Albert;
- Jacques, Thomas S.;
- Miyata, Hajime;
- Thom, Maria;
- Vinters, Harry V.;
- Spreafico, Roberto;
- Oz, Buge;
- Marucci, Gianluca;
- Pimentel, Jose;
- Mühlebner, Angelika;
- Zamecnik, Josef;
- Buccoliero, Anna Maria;
- Rogerio, Fabio;
- Streichenberger, Nathalie;
- Arai, Nobutaka;
- Bugiani, Marianna;
- Vogelgesang, Silke
Publication type:
Article
Cognitive outcome after extratemporal epilepsy surgery in childhood.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 11, p. 1966, doi. 10.1111/j.1528-1167.2011.03272.x
By:
- D'Argenzio, Luigi;
- Colonnelli, Maria Chiara;
- Harrison, Sue;
- Jacques, Thomas S.;
- Harkness, William;
- Vargha-Khadem, Faraneh;
- Scott, Rod C.;
- Cross, J. Helen
Publication type:
Article
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 1, p. 158, doi. 10.1111/j.1528-1167.2010.02777.x
By:
- Blümcke, Ingmar;
- Thom, Maria;
- Aronica, Eleonora;
- Armstrong, Dawna D.;
- Vinters, Harry V.;
- Palmini, Andre;
- Jacques, Thomas S.;
- Avanzini, Giuliano;
- Barkovich, A. James;
- Battaglia, Giorgio;
- Becker, Albert;
- Cepeda, Carlos;
- Cendes, Fernando;
- Colombo, Nadia;
- Crino, Peter;
- Cross, J. Helen;
- Delalande, Olivier;
- Dubeau, François;
- Duncan, John;
- Guerrini, Renzo
Publication type:
Article
2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist.
Published in:
Neuroradiology, 2022, v. 64, n. 10, p. 1919, doi. 10.1007/s00234-022-03008-6
By:
- McNamara, Cillian;
- Mankad, Kshitij;
- Thust, Stefanie;
- Dixon, Luke;
- Limback-Stanic, Clara;
- D'Arco, Felice;
- Jacques, Thomas S.;
- Löbel, Ulrike
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
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
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
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
Acute flaccid myelitis caused by enterovirus D68 unmasking primary intracranial tumour in a previously healthy child.
Published in:
Journal of Paediatrics & Child Health, 2021, v. 57, n. 10, p. 1713, doi. 10.1111/jpc.15374
By:
- Jan, Wajanat;
- Jones, Brynmor;
- Jeelani, Noor ul Owase;
- Jacques, Thomas S;
- Lyall, Hermione;
- Randell, Paul;
- Mewasingh, Leena;
- Whittaker, Elizabeth
Publication type:
Article
Mkp1 Is a c-Jun Target Gene That Antagonizes JNK-Dependent Apoptosis in Sympathetic Neurons.
Published in:
Journal of Neuroscience, 2010, v. 30, n. 32, p. 10820, doi. 10.1523/JNEUROSCI.2824-10.2010
By:
- Kristiansen, Mark;
- Hughes, Rosie;
- Patel, Pritika;
- Jacques, Thomas S.;
- Clark, Andrew R.;
- Ham, Jonathan
Publication type:
Article
Combinations of genetic mutations in the adult neural stem cell compartment determine brain tumour phenotypes.
Published in:
EMBO Journal, 2010, v. 29, n. 1, p. 222, doi. 10.1038/emboj.2009.327
By:
- Jacques, Thomas S.;
- Swales, Alexander;
- Brzozowski, Monika J.;
- Henriquez, Nico V.;
- Linehan, Jacqueline M.;
- Mirzadeh, Zaman;
- O' Malley, Catherine;
- Naumann, Heike;
- Alvarez-Buylla, Arturo;
- Brandner, Sebastian
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
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
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
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
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
WHO grade has no prognostic value in the pediatric high-grade glioma included in the HERBY trial.
Published in:
Neuro-Oncology, 2020, v. 22, n. 1, p. 116, doi. 10.1093/neuonc/noz142
By:
- Varlet, Pascale;
- Teuff, Gwénaël Le;
- Deley, Marie-Cécile Le;
- Giangaspero, Felice;
- Haberler, Christine;
- Jacques, Thomas S;
- Figarella-Branger, Dominique;
- Pietsch, Torsten;
- Andreiuolo, Felipe;
- Deroulers, Christophe;
- Jaspan, Tim;
- Jones, Chris;
- Grill, Jacques
Publication type:
Article
Challenges for the functional diffusion map in pediatric brain tumors.
Published in:
Neuro-Oncology, 2014, v. 16, n. 3, p. 449, doi. 10.1093/neuonc/not197
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.
Publication type:
Article
Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study.
Published in:
Arthritis Research & Therapy, 2014, v. 16, n. 4, p. 2, doi. 10.1186/ar4600
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.
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
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
MRI profiling of focal cortical dysplasia using multi‐compartment diffusion models.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 3, p. 433, doi. 10.1111/epi.16451
By:
- Lorio, Sara;
- Adler, Sophie;
- Gunny, Roxana;
- D'Arco, Felice;
- Kaden, Enrico;
- Wagstyl, Konrad;
- Jacques, Thomas S.;
- Clark, Chris A.;
- Cross, Judith Helen;
- Baldeweg, Torsten;
- Carmichael, David W.
Publication type:
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
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
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
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
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Published in:
Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
By:
- Tuschl, Karin;
- Meyer, Esther;
- Valdivia, Leonardo E.;
- Zhao, Ningning;
- Dadswell, Chris;
- Abdul-Sada, Alaa;
- Hung, Christina Y.;
- Simpson, Michael A.;
- Chong, W. K.;
- Jacques, Thomas S.;
- Woltjer, Randy L.;
- Eaton, Simon;
- Gregory, Allison;
- Sanford, Lynn;
- Kara, Eleanna;
- Houlden, Henry;
- Cuno, Stephan M.;
- Prokisch, Holger;
- Valletta, Lorella;
- Tiranti, Valeria
Publication type:
Article
Human IFNAR2 deficiency: Lessons for antiviral immunity.
Published in:
Science Translational Medicine, 2015, v. 7, n. 307, p. 1, doi. 10.1126/scitranslmed.aac4227
By:
- Duncan, Christopher J. A.;
- Mohamad, Siti M. B.;
- Young, Dan F.;
- Skelton, Andrew J.;
- Leahy, T. Ronan;
- Munday, Diane C.;
- Butler, Karina M.;
- Morfopoulou, Sofia;
- Brown, Julianne R.;
- Hubank, Mike;
- Connell, Jeff;
- Gavin, Patrick J.;
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- Lynch, Niamh E.;
- Jacques, Thomas S.;
- Valappil, Manoj;
- Cant, Andrew J.;
- Breuer, Judith;
- Engelhardt, Karin R.
Publication type:
Article
Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients.
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2015
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- Emmett, Warren A.;
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- 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
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
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- Joshi, Abhijit;
- Annavarapu, Srinivas;
- Jacques, Thomas S.;
- Mitra, Dipayan;
- Bailey, Simon
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Article
Genotype‐phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.
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Brain Pathology, 2019, v. 29, n. 4, p. 473, doi. 10.1111/bpa.12686
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Preclinical transgenic and patient‐derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma.
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Brain Pathology, 2018, v. 28, n. 4, p. 475, doi. 10.1111/bpa.12525
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- Bäuerle, Tobias;
- Buslei, Rolf;
- Buchfelder, Michael;
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- Koers, Alexander;
- Arthurs, Owen J.;
- Jacques, Thomas S.;
- Chesler, Louis;
- Martinez‐Barbera, Juan Pedro;
- Robinson, Simon P.
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Article
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.
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Annals of Neurology, 2005, v. 58, n. 3, p. 411
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- 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
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
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

Found: 75