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pro vyhledávání: '"Massey, Thomas H"'
Publikováno v:
In Clinical Medicine March 2024 24(2)
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, McLean, Zachariah L., Elezi, Emanuela, Lee, Ramee, Seung Kwak, McAllister, Branduff, Massey, Thomas H., Lobanov, Sergey, Holmans, Peter, Orth, Michael, Ciosi, Marc, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., Jong-Min Lee
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America; 4/16/2024, Vol. 121 Issue 16, p1-9, 18p
Autor:
Hong, Eun Pyo, Ramos, Eliana Marisa, Aziz, N Ahmad, Massey, Thomas H, McAllister, Branduff, Lobanov, Sergey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Orth, Michael, Ciosi, Marc, Lomeikaite, Vilija, Monckton, Darren G, Long, Jeffrey D, Lucente, Diane, Wheeler, Vanessa C, Gillis, Tammy, MacDonald, Marcy E, Sequeiros, Jorge, Gusella, James F
Publikováno v:
Brain Communications; 2024, Vol. 6 Issue 2, p1-11, 11p
Publikováno v:
In Handbook of Clinical Neurology 2024 205:193-215
Mutant huntingtin confers cell-autonomous phenotypes on Huntington's disease iPSC-derived microglia.
Autor:
Stöberl, Nina, Donaldson, Jasmine, Binda, Caroline S., McAllister, Branduff, Hall-Roberts, Hazel, Jones, Lesley, Massey, Thomas H., Allen, Nicholas D.
Publikováno v:
Scientific Reports; 11/22/2023, Vol. 13 Issue 1, p1-15, 15p
Autor:
Lobanov, Sergey V., McAllister, Branduff, McDade-Kumar, Mia, Landwehrmeyer, G. Bernhard, Orth, Michael, Rosser, Anne E., Paulsen, Jane S., Lee, Jong-Min, MacDonald, Marcy E., Gusella, James F., Long, Jeffrey D., Ryten, Mina, Williams, Nigel M., Holmans, Peter, Massey, Thomas H., Jones, Lesley
Publikováno v:
Lobanov, Sergey V.; McAllister, Branduff; McDade-Kumar, Mia; Landwehrmeyer, G. Bernhard; Orth, Michael; Rosser, Anne E.; Paulsen, Jane S.; Lee, Jong-Min; MacDonald, Marcy E.; Gusella, James F.; Long, Jeffrey D.; Ryten, Mina; Williams, Nigel M.; Holmans, Peter; Massey, Thomas H.; Jones, Lesley (2022). Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. NPJ genomic medicine, 7(1), p. 53. Springer Nature 10.1038/s41525-022-00317-w
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 machinery
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05d42a47a2bfeeea2b601b52e7d76f33
https://orca.cardiff.ac.uk/id/eprint/151348/4/s41525-022-00317-w.pdf
https://orca.cardiff.ac.uk/id/eprint/151348/4/s41525-022-00317-w.pdf
Autor:
Lee, Jong-Min, Huang, Yuan, Orth, Michael, Gillis, Tammy, Siciliano, Jacqueline, Hong, Eunpyo, Mysore, Jayalakshmi Srinidhi, Lucente, Diane, Wheeler, Vanessa C., Seong, Ihn Sik, McLean, Zachariah L., Mills, James A., McAllister, Branduff, Lobanov, Sergey V., Massey, Thomas H., Ciosi, Marc, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Sampaio, Cristina, Monckton, Darren G., Kwak, Seung, Holmans, Peter, Jones, Lesley, MacDonald, Marcy E., Long, Jeffrey D., Gusella, James F.
Publikováno v:
Am J Hum Genet
Genome-wide association studies (GWASs) of Huntington 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 with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94dfa6e2f780bbe095be8c437ec0579
https://orca.cardiff.ac.uk/id/eprint/151657/1/Lee_Huang_et_al_AJHG_revision_2.pdf
https://orca.cardiff.ac.uk/id/eprint/151657/1/Lee_Huang_et_al_AJHG_revision_2.pdf
Autor:
Cooper, Miriam, Gale, Katherine, Langley, Kate, Broughton, Thomas, Massey, Thomas H., Hall, Nicola J., Jones, Catherine R.G.
Autism is a neurodevelopmental condition with a very heterogeneous presentation. Autistic people are more likely to have unmet healthcare needs, making it essential that healthcare professionals are ‘autism-aware’. In this article, we provide an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::bd9fb2a36b83bd2fb1e0fc9c930c4cde