Zobrazeno 1 - 10
of 20
pro vyhledávání: '"the PREDICT-HD Investigators of the Huntington Study Group"'
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:
McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline, Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael, Eun Pyo, Hong, Lucente, Diane, Wheeler, Vanessa, Jong-Min, Lee, MacDonald, Marcy, Long, Jeffrey, Aylward, Elizabeth, Landwehrmeyer, G. Bernhard, Rosser, Anne, REGISTRY Investigators of the European Huntington’s disease netw, Paulsen, Jane, PREDICT-HD Investigators of the Huntington Study Group, Williams, Nigel, Gusella, James, Monckton, Darren, Allen, Nicholas, Holmans, Peter, Jones, Lesley, Massey, Thomas
The age at onset of motor symptoms in Huntington’s disease (HD) is driven byHTTCAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4672876c574bdbe0b8cb8c6f9285fcdd
https://orca.cardiff.ac.uk/id/eprint/148983/3/s41593-022-01033-5.pdf
https://orca.cardiff.ac.uk/id/eprint/148983/3/s41593-022-01033-5.pdf
Autor:
Lobanov, Sergey V., McAllister, Branduff, McDade-Kumar, Mia, Landwehrmeyer, G. Bernhard, Orth, Michael, Rosser, Anne E., REGISTRY Investigators of the European Huntington's disease network, Paulsen, Jane S., PREDICT-HD Investigators of the Huntington Study Group, 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:
NPJ Genomic Medicine; 9/5/2022, Vol. 7 Issue 1, p1-9, 9p
Autor:
Musso, Mandi, Westervelt, Holly James, Long, Jeffrey D, Morgan, Erin, Woods, Steven Paul, Smith, Megan M, Lu, Wenjing, Paulsen, Jane S, PREDICT-HD Investigators of the Huntington Study Group
Publikováno v:
Journal of the International Neuropsychological Society : JINS, vol 21, iss 1
The current study sought to examine the utility of intra-individual variability (IIV) in distinguishing participants with prodromal Huntington disease (HD) from nongene-expanded controls. IIV across 15 neuropsychological tasks and within-task IIV usi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::643bc6cf90e9e8e40bbdcd155e26915e
https://escholarship.org/uc/item/64s52036
https://escholarship.org/uc/item/64s52036
Autor:
Koenig, Katherine A, Lowe, Mark J, Harrington, Deborah L, Lin, Jian, Durgerian, Sally, Mourany, Lyla, Paulsen, Jane S, Rao, Stephen M, PREDICT-HD Investigators of the Huntington Study Group
Publikováno v:
Brain connectivity, vol 4, iss 7
Subtle changes in motor function have been observed in individuals with prodromal Huntington disease (prHD), but the underlying neural mechanisms are not well understood nor is the cumulative effect of the disease (disease burden) on functional conne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::4c068ccae133a733710849b6ea6abb67
https://escholarship.org/uc/item/4kv662dn
https://escholarship.org/uc/item/4kv662dn
Autor:
Harrington, Deborah Lynn, Smith, Megan M, Zhang, Ying, Carlozzi, Noelle E, Paulsen, Jane S, PREDICT-HD Investigators of the Huntington Study Group
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry, vol 83, iss 6
BackgroundProdromal Huntington's disease (prHD) is associated with a myriad of cognitive changes but the domains that best predict time to clinical diagnosis have not been studied. This is a notable gap because some domains may be more sensitive to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::3f6a4fe82a51de27d1992f6003e560f7
https://escholarship.org/uc/item/2zk487cf
https://escholarship.org/uc/item/2zk487cf
Network topology and functional connectivity disturbances precede the onset of Huntington's disease.
Autor:
Harrington, Deborah L., Rubinov, Mikail, Durgerian, Sally, Mourany, Lyla, Reece, Christine, Koenig, Katherine, Bullmore, Ed, Long, Jeffrey D., Paulsen, Jane S., Rao, Stephen M., PREDICT-HD investigators of the Huntington Study Group
Publikováno v:
Brain: A Journal of Neurology; Aug2015, Vol. 138 Issue 8, p2332-2346, 15p
Autor:
McCusker, Elizabeth A, Gunn, David G, Epping, Eric A, Loy, Clement T, Radford, Kylie, Griffith, Jane, Mills, James A, Long, Jeffrey D, Paulsen, Jane S, PREDICT-HD Investigators of the Huntington Study Group
Publikováno v:
Neurology; 9/24/2013, Vol. 81 Issue 13, p1141-1147, 7p
Autor:
Downing, Nancy, Smith, MeganM., Beglinger, LeighJ., Mills, James, Duff, Kevin, Rowe, KellyC., Epping, Eric, Paulsen, JaneS., the PREDICT-HD Investigators of the Huntington Study Group
Publikováno v:
Psychology & Health; Feb2012, Vol. 27 Issue 2, p196-209, 14p
Autor:
O'Rourke, JustinJ. F., Beglinger, LeighJ., Smith, MeganM., Mills, James, Moser, DavidJ., Rowe, KellyC., Langbehn, DouglasR., Duff, Kevin, Stout, JulieC., Harrington, DeborahL., Carlozzi, Noelle, Paulsen, JaneS., the PREDICT-HD Investigators of the Huntington Study Group
Publikováno v:
Journal of Clinical & Experimental Neuropsychology; Jun2011, Vol. 33 Issue 5, p567-579, 13p, 4 Charts