Zobrazeno 1 - 10
of 510
pro vyhledávání: '"Paulsen, A."'
Autor:
Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, Rede NEUROGENÉTICA
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020)
ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched cha
Externí odkaz:
https://doaj.org/article/0a775c15e7a645eb8c1bf15230a492e3
Autor:
Carlozzi, N. E., Schilling, S. G., Lai, J.-S., Paulsen, J. S., Hahn, E. A., Perlmutter, J. S., Ross, C. A., Downing, N. R., Kratz, A. L., McCormack, M. K., Nance, M. A., Quaid, K. A., Stout, J. C., Gershon, R. C., Ready, R. E., Miner, J. A., Barton, S. K., Perlman, S. L., Rao, S. M., Frank, S., Shoulson, I., Marin, H., Geschwind, M. D., Dayalu, P., Goodnight, S. M., Cella, D.
Publikováno v:
Quality of Life Research, 2016 Oct 01. 25(10), 2441-2455.
Externí odkaz:
https://www.jstor.org/stable/44852982
Autor:
Carlozzi, N. E., Downing, N. R., McCormack, M. K., Schilling, S. G., Perlmutter, J. S., Hahn, E. A., Lai, J. -S., Frank, S., Quaid, K. A., Paulsen, J. S., Cella, D., Goodnight, S. M., Miner, J. A., Nance, M. A.
Publikováno v:
Quality of Life Research, 2016 Oct 01. 25(10), 2403-2415.
Externí odkaz:
https://www.jstor.org/stable/44852979
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
David Cella, Danny Bega, Samuel Frank, Jane S. Paulsen, Benzi M. Kluger, Joshua Hauser, Jonathan P. Troost, Allison J. Applebaum, Noelle E. Carlozzi, Colin A. Depp, Nicholas R. Boileau, Leonard L. Sokol
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1668-1679 (2021)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective Previous work in Huntington’s disease (HD) has shown that a sense of meaning and purpose (M&P) is positively associated with positive affect and well‐being (PAW); however, it was unknown whether HD‐validated patient‐reported outcome
Autor:
Stoebner, Zachary A., Hett, Kilian, Lyu, Ilwoo, Johnson, Hans, Paulsen, Jane S., Long, Jeffrey D., Oguz, Ipek
Publikováno v:
Human Brain Mapping; Mar2023, Vol. 44 Issue 4, p1417-1431, 15p
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:
McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline S., Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura-Nadine, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael J., Hong, Eun Pyo, Lucente, Diane, Wheeler, Vanessa, Lee, Jong-Min, MacDonald, Marcy E., Long, Jeffrey D., Aylward, Elizabeth H., Landwehrmeyer, G. Bernhard, Rosser, Anne E., Paulsen, Jane S., Williams, Nigel M., Gusella, James F., Monckton, Darren G., Allen, Nicholas D., Holmans, Peter, Jones, Lesley, Massey, Thomas H.
The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG 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=pmid_dedup__::031d35dd8c758a862229126dfcce2a89
https://eprints.gla.ac.uk/268686/1/268686.pdf
https://eprints.gla.ac.uk/268686/1/268686.pdf
Publikováno v:
Neurobiology of Disease, Vol 55, Iss , Pp 37-43 (2013)
24S-hydroxycholesterol (24OHC) is involved in the conversion of excess cholesterol in the brain, and its level in plasma is related to the number of metabolically active neuronal cells. Previous research suggests that plasma 24OHC is substantially re
Externí odkaz:
https://doaj.org/article/284a4736cde64341ac700068556abcf6