Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Thomas H Massey"'
Autor:
Ruth Dobson, Alastair Noyce, Peter MacCallum, Veronica White, Thomas H Massey, Joseph Walton, Devan Mair, Safiya A Zaloum, Marta Patyjewicz, Barbara Onen, Christine Joerres, Apeksha Madhusudan Shah, Tadbir Bariana, Sarah A De Freitas
Publikováno v:
BMJ Neurology Open, Vol 6, Iss 1 (2024)
Background The study aimed to elucidate the prevalence of nitrous oxide (N2O) usage in patients with unexplained venous thromboembolism (VTE), highlighting the potential association with hyperhomocysteinaemia (HHcy).Methods We conducted a retrospecti
Externí odkaz:
https://doaj.org/article/528e6af9dce04ec68eec82f2a4a6f460
Autor:
Nina Stöberl, Jasmine Donaldson, Caroline S. Binda, Branduff McAllister, Hazel Hall-Roberts, Lesley Jones, Thomas H. Massey, Nicholas D. Allen
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Huntington’s disease (HD) is a neurodegenerative disorder caused by a dominantly inherited CAG repeat expansion in the huntingtin gene (HTT). Neuroinflammation and microglia have been implicated in HD pathology, however it has been unclear
Externí odkaz:
https://doaj.org/article/776cc0348ad24bafa0ac3a683d030c4d
Autor:
Sergey V. Lobanov, Branduff McAllister, Mia McDade-Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne E. Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Jong-Min Lee, Marcy E. MacDonald, James F. Gusella, Jeffrey D. Long, Mina Ryten, Nigel M. Williams, Peter Holmans, Thomas H. Massey, Lesley Jones
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance
Externí odkaz:
https://doaj.org/article/471abbf3af654a65a0a60f88b8f7af52
Autor:
Thomas H. Massey, Lesley Jones
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 1 (2018)
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold. These diseases are all characterised by neurological sy
Externí odkaz:
https://doaj.org/article/7742ab98b79543cb94e5925601247972
Autor:
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion
Publikováno v:
NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more
Autor:
Caroline S Binda, Branduff McAllister, Georgina Menzies, Gareth Edwards, James Davies, Lesley Jones, Thomas H Massey
Publikováno v:
C: Genetic modifiers.
Publikováno v:
Neurology. 98(12)
Autor:
Jong-Min Lee, Yuan Huang, Michael Orth, Tammy Gillis, Jacqueline Siciliano, Eunpyo Hong, Jayalakshmi Srinidhi Mysore, Diane Lucente, Vanessa C. Wheeler, Ihn Sik Seong, Zachariah L. McLean, James A. Mills, Branduff McAllister, Sergey V. Lobanov, Thomas H. Massey, Marc Ciosi, G. Bernhard Landwehrmeyer, Jane S. Paulsen, E. Ray Dorsey, Ira Shoulson, Cristina Sampaio, Darren G. Monckton, Seung Kwak, Peter Holmans, Lesley Jones, Marcy E. MacDonald, Jeffrey D. Long, James F. Gusella
Genome-wide association studies (GWAS) of Huntington’s disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0b9d33ee290b5558053702a445a6b63
https://doi.org/10.1101/2022.01.03.22268687
https://doi.org/10.1101/2022.01.03.22268687
Aim: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterised by myoclonus, epilepsy, ataxia and dementia. Diagnosis is challenging due to the heterogeneous presentation and symptomatic overlap wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f39d1386cddfd095b6fd61a79d606d98
Chromosome dimers, which frequently form in Escherichia coli, are resolved by the combined action of two tyrosine recombinases, XerC and XerD, acting at a specific site on the chromosome, dif, together with the cell division protein FtsK. The C-termi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::288ba710ece006af24d3a5e2238c8f5d
https://doi.org/10.1038/sj.embor.7400116
https://doi.org/10.1038/sj.embor.7400116