Zobrazeno 1 - 10
of 897
pro vyhledávání: '"Gusella James F"'
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries
Autor:
Nuttle, Xander, Burt, Nicholas D., Currall, Benjamin, Moysés-Oliveira, Mariana, Mohajeri, Kiana, Bhavsar, Riya, Lucente, Diane, Yadav, Rachita, Tai, Derek J.C., Gusella, James F., Talkowski, Michael E.
Publikováno v:
In Cell Reports Methods 22 January 2024 4(1)
Autor:
Halter Cheryl, DeStefano Anita L, Mariani Claudio B, Pezzoli Gianni, Goldwurm Stefano, Wilk Jemma B, Dumitriu Alexandra, Pankratz Nathan, Latourelle Jeanne C, Gusella James F, Nichols William C, Myers Richard H, Foroud Tatiana
Publikováno v:
BMC Medical Genetics, Vol 10, Iss 1, p 98 (2009)
Abstract Background Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age may represent invalua
Externí odkaz:
https://doaj.org/article/9dc1cdf15dcf4c7f9d54fbb1026b0416
Autor:
Roy Jennifer, Engler David A, Betensky Rebecca A, Plotkin Scott, Mohapatra Gayatry, James Marianne, Stemmer-Rachamimov Anat, Nunes Fabio, Shen Yiping, Ramesh Vijaya, Gusella James F
Publikováno v:
BMC Medical Genomics, Vol 2, Iss 1, p 42 (2009)
Abstract Background Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with no family history. Men
Externí odkaz:
https://doaj.org/article/d36b6d02d257428096a8cdb2536d782a
Autor:
Corbett Alastair, Nicholson Garth, Litvan Irene, Itin Ilia, Baker Kenneth B, DeStefano Anita L, Laramie Jason M, Huskey Karen W, Massood Tiffany, Wilk Jemma B, Nagle Michael W, Williamson Sally, Hendricks Audrey E, Saint-Hilaire Marie H, Zini Michela, Pezzoli Gianni, Goldwurm Stefano, Singer Carlos, Shill Holly A, Ahmed Anwar, Perlmutter Joel S, Guttman Mark, Racette Brad A, Watts Ray L, Wooten G Frederick, Growdon John H, Mark Margery H, Golbe Lawrence I, Klein Christine, Suchowersky Oksana, Lew Mark F, Sun Mei, Latourelle Jeanne C, Nance Martha, Drasby Edward, Isaacson Stuart, Burn David J, Chinnery Patrick F, Pramstaller Peter P, Al-hinti Jomana, Moller Anette T, Ostergaard Karen, Sherman Scott J, Roxburgh Richard, Snow Barry, Slevin John T, Cambi Franca, Gusella James F, Myers Richard H
Publikováno v:
BMC Medicine, Vol 6, Iss 1, p 32 (2008)
Abstract Background We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated w
Externí odkaz:
https://doaj.org/article/f73c03813f604cc4a82de0bfb5bdb442
Autor:
Myers Richard H, Djoussé Luc, Hakky Michael, Gillis Tammy, Zeng Wenqi, MacDonald Marcy E, Gusella James F
Publikováno v:
BMC Neuroscience, Vol 7, Iss 1, p 62 (2006)
Abstract Background In Huntington's disease (HD), age at neurological onset is inversely correlated with the length of the CAG trinucleotide repeat mutation, but can be modified by genetic factors beyond the HD gene. Association of a relatively infre
Externí odkaz:
https://doaj.org/article/f689c99d505b420b978cb9969e1e7ce5
Autor:
Gillis Tammy, Mysore Jayalakshmi, Djoussé Luc, Xu Gang, Prakash Ranjana, Wheeler Vanessa C, Lazzarini Alice, Ashizawa Tetsuo, Jones Randi, Paulsen Jane S, Frontali Marina, Novelletto Andrea, McCusker Elizabeth, Trent Ronald JA, Klimek Mary, Suchowersky Oksana, García Carmen, Gómez-Tortosa Estrella, Frati Luigi, Squitieri Ferdinando, Rosenblatt Adam, Margolis Russell L, Ross Christopher A, Nance Martha, Morrison Patrick J, Durr Alexandra, Warby Simon C, Hayden Michael R, Li Jian-Liang, Hakky Michael, Cupples L Adrienne, Saint-Hilaire Marie H, Cha Jang-Ho J, Hersch Steven M, Penney John B, Harrison Madaline B, Perlman Susan L, Zanko Andrea, Abramson Ruth K, Lechich Anthony J, Duckett Ayana, Marder Karen, Conneally P Michael, Gusella James F, MacDonald Marcy E, Myers Richard H
Publikováno v:
BMC Medical Genetics, Vol 7, Iss 1, p 71 (2006)
Abstract Background Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD
Externí odkaz:
https://doaj.org/article/e3f085610415408f8f263d3a98bea8fe
Publikováno v:
BMC Neuroscience, Vol 6, Iss 1, p 1 (2005)
Abstract Background Huntington's disease (HD) is an inherited neurodegenerative disorder triggered by an expanded polyglutamine tract in huntingtin that is thought to confer a new conformational property on this large protein. The propensity of small
Externí odkaz:
https://doaj.org/article/c07c8b716c3d41c08d799135e9c2b1d3
Autor:
Gusella James F, Takano Hiroki
Publikováno v:
BMC Neuroscience, Vol 3, Iss 1, p 15 (2002)
Abstract Background Huntington's disease (HD) pathogenesis is due to an expanded polyglutamine tract in huntingtin, but the specificity of neuronal loss compared with other polyglutamine disorders also implies a role for the protein's unknown inheren
Externí odkaz:
https://doaj.org/article/b6f547a7e98643d2be6bb1a7d1a844b6
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.