An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene

Authors: Zita Reisz, Rita Pereira, Smitha Nevis, Alan Mackay, Leena Bhaw, Yura Grabovska, Ross Laxton, Valeria Molinari, Anna Burford, Barnaby Clark, Cristina Bleil, Bassel Zebian, Erika Pace, Annette Weiser, Fernando Carceller, Lynley Marshall, Andrew King, Istvan Bodi, Safa Al-Sarraj, Chris Jones, Matthew Clarke

Source: Acta Neuropathologica Communications, Vol 13, Iss 1, Pp 1-6 (2025)

Subject Terms: Diffuse midline glioma, Histone-mutant, High-grade glioma, Rare case, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/b89188a231eb48fa89fbbfc54bf0f9f8

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

Authors: Benjamin G. Trist, Jennifer A. Fifita, Alison Hogan, Natalie Grima, Bradley Smith, Claire Troakes, Caroline Vance, Christopher Shaw, Safa Al-Sarraj, Ian P. Blair, Kay L. Double

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-17 (2022)

Subject Terms: Superoxide dismutase-1, TAR DNA-binding protein 43, p62/SQSTM1, Proteinopathy, Amyotrophic lateral sclerosis, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/6009cd789000488891a5da5a25f5909a

Case Report: Brainstem angiocentric glioma presenting in a toddler child–diagnostic and therapeutic challenges

Authors: Zita Reisz, Bence Laszlo Radics, Peter Nemes, Ross Laxton, Laszlo Kaizer, Krisztina Mita Gabor, Timea Novak, Pal Barzo, Safa Al-Sarraj, Istvan Bodi

Source: Pathology and Oncology Research, Vol 29 (2023)

Subject Terms: paediatric brainstem glioma, angiocentric glioma, MYB:QKI fusion, DNA methylation profiling, RNA sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Pathology, RB1-214

File Description: electronic resource

Relation: https://www.por-journal.com/articles/10.3389/pore.2023.1611231/full; https://doaj.org/toc/1532-2807

Access URL: https://doaj.org/article/b2d9224d2e4f4f87b98537d955cf4bc2

Tau deposition patterns are associated with functional connectivity in primary tauopathies

Authors: Nicolai Franzmeier, Matthias Brendel, Leonie Beyer, Luna Slemann, Gabor G. Kovacs, Thomas Arzberger, Carolin Kurz, Gesine Respondek, Milica J. Lukic, Davina Biel, Anna Rubinski, Lukas Frontzkowski, Selina Hummel, Andre Müller, Anika Finze, Carla Palleis, Emanuel Joseph, Endy Weidinger, Sabrina Katzdobler, Mengmeng Song, Gloria Biechele, Maike Kern, Maximilian Scheifele, Boris-Stephan Rauchmann, Robert Perneczky, Michael Rullman, Marianne Patt, Andreas Schildan, Henryk Barthel, Osama Sabri, Jost J. Rumpf, Matthias L. Schroeter, Joseph Classen, Victor Villemagne, John Seibyl, Andrew W. Stephens, Edward B. Lee, David G. Coughlin, Armin Giese, Murray Grossman, Corey T. McMillan, Ellen Gelpi, Laura Molina-Porcel, Yaroslau Compta, John C. van Swieten, Laura Donker Laat, Claire Troakes, Safa Al-Sarraj, John L. Robinson, Sharon X. Xie, David J. Irwin, Sigrun Roeber, Jochen Herms, Mikael Simons, Peter Bartenstein, Virginia M. Lee, John Q. Trojanowski, Johannes Levin, Günter Höglinger, Michael Ewers

Source: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/bd1a4c237aa0450eb6ad79b56669c4c6

Genome-wide characterization of mitochondrial DNA methylation in human brain

Authors: Matthew Devall, Darren M. Soanes, Adam R. Smith, Emma L. Dempster, Rebecca G. Smith, Joe Burrage, Artemis Iatrou, Eilis Hannon, Claire Troakes, Karen Moore, Paul O’Neill, Safa Al-Sarraj, Leonard Schalkwyk, Jonathan Mill, Michael Weedon, Katie Lunnon

Source: Frontiers in Endocrinology, Vol 13 (2023)

Subject Terms: 5-Methylcytosine (5mC), Brain, DNA Methylation, epigenetics, Mitochondria, mtDNA, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.1059120/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/76c6f9056010427380458856bb8a4059

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Authors: Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda Halliday, David J. Stone, Dennis W. Dickson, John Hardy, Andrew Singleton, Rita Guerreiro, Jose Bras

Source: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-11 (2020)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/eb7da7eb422d4a428e7652ae48f842e3

Heritability and genetic variance of dementia with Lewy bodies

Authors: Rita Guerreiro, Valentina Escott-Price, Dena G. Hernandez, Celia Kun-Rodrigues, Owen A. Ross, Tatiana Orme, Joao Luis Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, Juan C. Troncoso, Olga Pletnikova, Ted Dawson, Liana Rosenthal, Olaf Ansorge, Jordi Clarimon, Alberto Lleo, Estrella Morenas-Rodriguez, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda M. Halliday, John Hardy, John Q. Trojanowski, Dennis W. Dickson, Andrew Singleton, David J. Stone, Jose Bras

Source: Neurobiology of Disease, Vol 127, Iss , Pp 492-501 (2019)

Subject Terms: Genetic variance, Dementia, Lewy bodies, Genetic correlation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996119300956; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/8a8a606f7f4c49d690647ef64ba97f82

The histone modification H3K4me3 is altered at the ANK1 locus in Alzheimer's disease brain

Authors: Adam R Smith, Rebecca G Smith, Ruby Macdonald, Sarah J Marzi, Joe Burrage, Claire Troakes, Safa Al-Sarraj, Jonathan Mill, Katie Lunnon

Source: Future Science OA, Vol 7, Iss 4 (2021)

Subject Terms: Alzheimer's disease, ANK1, brain, chromatin modifications, DNA methylation, Epigenetics, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2056-5623

Access URL: https://doaj.org/article/e8edfd606bbb46548e6a839ae3c45883

Histopathological findings and viral tropism in UK patients with severe fatal COVID-19: a post-mortem study

Authors: Brian Hanley, MBBCh, Kikkeri N Naresh, ProfMD, Candice Roufosse, PhD, Andrew G Nicholson, ProfDM, Justin Weir, FRCPath, Graham S Cooke, ProfFRCP, Mark Thursz, ProfMD, Pinelopi Manousou, PhD, Richard Corbett, PhD, Robert Goldin, ProfMD, Safa Al-Sarraj, ProfFRCPath, Alireza Abdolrasouli, PhD, Olivia C Swann, MRes, Laury Baillon, BSc, Rebecca Penn, MSc, Wendy S Barclay, ProfPhD, Patrizia Viola, MD, Michael Osborn, FRCPath

Source: The Lancet Microbe, Vol 1, Iss 6, Pp e245-e253 (2020)

Subject Terms: Medicine (General), R5-920, Microbiology, QR1-502

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666524720301154; https://doaj.org/toc/2666-5247

Access URL: https://doaj.org/article/b910c056406e4a2cbe5e3619d204d092

Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer’s disease

Authors: Adam R. Smith, Rebecca G. Smith, Ehsan Pishva, Eilis Hannon, Janou A. Y. Roubroeks, Joe Burrage, Claire Troakes, Safa Al-Sarraj, Carolyn Sloan, Jonathan Mill, Daniel L. van den Hove, Katie Lunnon

Source: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-13 (2019)

Subject Terms: Alzheimer’s disease (AD), Brain, Ankyrin 1 (ANK1), DNA methylation (5mC), DNA hydroxymethylation (5hmC), Entorhinal cortex (EC), Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-019-0636-y; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/a2d864d64def4e4f9da5378cdfdff5c4

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue—applications for studies of mitochondrial genetics in brain disorders

Authors: Matthew Devall, Joe Burrage, Richard Caswell, Matthew Johnson, Claire Troakes, Safa Al-Sarraj, Aaron R Jeffries, Jonathan Mill, Katie Lunnon

Source: BioTechniques, Vol 59, Iss 4, Pp 241-246 (2015)

Subject Terms: mitochondria, genetics, epigenetics, isolation, DNA, mtDNA, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/0736-6205; https://doaj.org/toc/1940-9818

Access URL: https://doaj.org/article/db2d141b423a44a585d81507be83d570

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Authors: Celeste Sassi, Perry G Ridge, Michael A Nalls, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, ARUK Consortium, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Jose Bras, Alison M Goate, Andrew B Singleton, Rita Guerreiro, John Hardy

Source: PLoS ONE, Vol 11, Iss 6, p e0150079 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/ac919710348e4339ab197e881d48d2f5

Safety, pharmacokinetic, and functional effects of the nogo-a monoclonal antibody in amyotrophic lateral sclerosis: a randomized, first-in-human clinical trial.

Authors: Vincent Meininger, Pierre-François Pradat, Andrea Corse, Safa Al-Sarraj, Benjamin Rix Brooks, James B Caress, Merit Cudkowicz, Stephen J Kolb, Dale Lange, P Nigel Leigh, Thomas Meyer, Stefano Milleri, Karen E Morrison, Richard W Orrell, Gary Peters, Jeffrey D Rothstein, Jeremy Shefner, Arseniy Lavrov, Nicola Williams, Phil Overend, Jeffrey Price, Stewart Bates, Jonathan Bullman, David Krull, Alienor Berges, Bams Abila, Guy Meno-Tetang, Jens Wurthner

Source: PLoS ONE, Vol 9, Iss 5, p e97803 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4026380?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a10f2b867b174c858f2c458ef8e54388

Distinct phenotypic differences associated with differential amplification of receptor tyrosine kinase genes at 4q12 in glioblastoma.

Authors: Anna Burford, Suzanne E Little, Alexa Jury, Sergey Popov, Ross Laxton, Lawrence Doey, Safa Al-Sarraj, Juliane M Jürgensmeier, Chris Jones

Source: PLoS ONE, Vol 8, Iss 8, p e71777 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23990986/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/bacc8a876968482d9b683edda977b0f9

IDH1-associated primary glioblastoma in young adults displays differential patterns of tumour and vascular morphology.

Authors: Sergey Popov, Alexa Jury, Ross Laxton, Lawrence Doey, Naga Kandasamy, Safa Al-Sarraj, Juliane M Jürgensmeier, Chris Jones

Source: PLoS ONE, Vol 8, Iss 2, p e56328 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3579823?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/023e7dffecea40b98a0ff76687c13284

Microsatellite instability in pediatric high grade glioma is associated with genomic profile and differential target gene inactivation.

Authors: Marta Viana-Pereira, Alicia Lee, Sergey Popov, Dorine A Bax, Safa Al-Sarraj, Leslie R Bridges, João N Stávale, Darren Hargrave, Chris Jones, Rui M Reis

Source: PLoS ONE, Vol 6, Iss 5, p e20588 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3102740?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/77ef1dfc3e6541fab41b35b6ce6f9659

A role for fibrillar collagen deposition and the collagen internalization receptor endo180 in glioma invasion.

Authors: Ivo J Huijbers, Marjan Iravani, Sergey Popov, David Robertson, Safa Al-Sarraj, Chris Jones, Clare M Isacke

Source: PLoS ONE, Vol 5, Iss 3, p e9808 (2010)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20339555/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/d2b20241bfd44b7782343c3f5e9990a2

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