未登录 Genetic dissection of Huntington's disease modification by variation at RRM2B Huntington's disease的遗传解析及其由RRM2B变异引起的修饰 Lee, Kiuk; Shin, Baehyun; Kim, Mingyu; Lee, Seong Won; Oh, Young Mi; Kim, Kyung-Hee; Jiang, Andrew; Ko, Kwanyoung; Gillis, Tammy; Lucente, Diane; Lee, Ramee; Kwak, Seung; Lee, Jong-Min; Wheeler, Vanessa C.; Yoo, Andrew S.; Gusella, James F.; Macdonald, Marcy E.; Seong, Ihn Sik 分享 收藏
Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model Jiang, Andrew; You, Linya; Handley, Renee R.; Hawkins, Victoria; Reid, Suzanne J.; Jacobsen, Jessie C.; Patassini, Stefano; Rudiger, Skye R.; Mclaughlan, Clive J.; Kelly, Jennifer M.; Verma, Paul J.; Bawden, C. Simon; Gusella, James F.; Macdonald, Marcy E.; Waldvogel, Henry J.; Faull, Richard L. M.; Lehnert, Klaus; Snell, Russell G. 分享 收藏
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat Mclean, Zachariah L.; Gao, Dadi; Correia, Kevin; Roy, Jennie C. L.; Shibata, Shota; Farnum, Iris N.; Valdepenas-Mellor, Zoe; Kovalenko, Marina; Rapuru, Manasa; Morini, Elisabetta; Ruliera, Jayla; Gillis, Tammy; Lucente, Diane; Kleinstiver, Benjamin P.; Lee, Jong-Min; Macdonald, Marcy E.; Wheeler, Vanessa C.; Mouro Pinto, Ricardo; Gusella, James F. 分享 收藏
Modification of Huntington's disease by short tandem repeats 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.; Lee, Jong-Min 分享 收藏
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550 Lee, Yejin; Kim, Hyeongju; Barker, Douglas; Vijayvargia, Ravi; Atwal, Ranjit Singh; Specht, Harrison; Keshishian, Hasmik; Carr, Steven A.; Lee, Ramee; Kwak, Seung; Hyun, Kyung-Gi; Loupe, Jacob; MacDonald, Marcy E.; Song, Ji-Joon; Seong, Ihn Sik 分享 收藏
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Genetic modifiers of Huntington disease differentially influence motor and cognitive domains 亨廷顿病的遗传修饰因子对运动和认知域的影响不同 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. 分享 收藏
PROTEIN CODING TANDEM REPEAT IN TCERG1 MODIFIES HUNTINGTON'S DISEASE ONSET Lobanov, Sergey; McAllister, Branduff; McDade-Kumar, Mia; Lee, Jong-Min; MacDonald, Marcy; Gusella, James; Ryten, Mina; Williams, Nigel; Holmans, Peter; Massey, Thomas; Jones, Lesley 分享 收藏
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Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease McAllister, Branduff; Gusella, James F.; Landwehrmeyer, G. Bernhard; Lee, Jong-Min; MacDonald, Marcy E.; Orth, Michael; Rosser, Anne E.; Williams, Nigel M.; Holmans, Peter; Jones, Lesley; Massey, Thomas H. 分享 收藏
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs Jung, Roy; Lee, Yejin; Barker, Douglas; Correia, Kevin; Shin, Baehyun; Loupe, Jacob; Collins, Ryan L.; Lucente, Diane; Ruliera, Jayla; Gillis, Tammy; Mysore, Jayalakshmi S.; Rodan, Lance; Picker, Jonathan; Lee, Jong-Min; Howland, David; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E.; Gusella, James F.; Seong, Ihn Sik 分享 收藏
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease 亨廷顿病的精神和认知症状的遗传风险 Ellis, Natalie; Tee, Amelia; McAllister, Branduff; Massey, Thomas; McLauchlan, Duncan; Stone, Timothy; Correia, Kevin; Loupe, Jacob; Kim, Kyung-Hee; Barker, Douglas; Hong, Eun Pyo; Chao, Michael J.; Long, Jeffrey D.; Lucente, Diane; Vonsattel, Jean Paul G.; Pinto, Ricardo Mouro; Abu Elneel, Kawther; Ramos, Eliana Marisa; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Wheeler, Vanessa C.; Medway, Christopher; Hall, Lynsey; Kwak, Seung; Sampaio, Cristina; Ciosi, Marc; Maxwell, Alastair; Chatzi, Afroditi; Monckton, Darren G.; Orth, Michael; Landwehrmeyer, G. Bernhard; Paulsen, Jane S.; Shoulson, Ira; Myers, Richard H.; van Duijn, Erik; Rickards, Hugh; MacDonald, Marcy E.; Lee, Jong-min; Gusella, James F.; Jones, Lesley; Holmans, Peter 分享 收藏
Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites Kedaigle, Amanda J.; Fraenkel, Ernest; Atwal, Ranjit S.; Wu, Min; Gusella, James F.; MacDonald, Marcy E.; Kaye, Julia A.; Finkbeiner, Steven; Mattis, Virginia B.; Tom, Colton M.; Svendsen, Clive; King, Alvin R.; Chen, Yumay; Stocksdale, Jennifer T.; Lim, Ryan G.; Casale, Malcolm; Wang, Ping H.; Thompson, Leslie M.; Akimov, Sergey S.; Ratovitski, Tamara; Arbez, Nicolas; Ross, Christopher A. 分享 收藏
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase Long, Jeffrey D.; Lee, Jong-Min; Aylward, Elizabeth H.; Gillis, Tammy; Mysore, Jayalakshmi Srinidhi; Abu Elneel, Kawther; Chao, Michael J.; Paulsen, Jane S.; MacDonald, Marcy E.; Gusella, James F. 分享 收藏
SHARED GENETIC LIABILITY BETWEEN NEUROPSYCHIATRIC DISORDERS AND PSYCHIATRIC SYMPTOMS IN HD Holmans, Peter; Tee, Amelia; Ellis, Natalie; McAllister, Branduff; Massey, Tom; Stone, Tim; Orth, Michael; Lee, Jong-Min; MacDonald, Marcy; Gusella, James; Jones, Lesley 分享 收藏
Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity Shin, Baehyun; Jung, Roy; Oh, Hyejin; Owens, Gwen E.; Lee, Hyeongseok; Kwak, Seung; Lee, Ramee; Cotman, Susan L.; Lee, Jong-Min; MacDonald, Marcy E.; Song, Ji-Joon; Vijayvargia, Ravi; Seong, Ihn Sik 分享 收藏
Transcriptional regulatory networks underlying gene expression changes in Huntington's disease 亨廷顿舞蹈病中基因表达变化的转录调控网络 Ament, Seth A.; Pearl, Jocelynn R.; Cantle, Jeffrey P.; Bragg, Robert M.; Skene, Peter J.; Coffey, Sydney R.; Bergey, Dani E.; Wheeler, Vanessa C.; MacDonald, Marcy E.; Baliga, Nitin S.; Rosinski, Jim; Hood, Leroy E.; Carroll, Jeffrey B.; Price, Nathan D. 分享 收藏
Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases 脑尿素增加是在前驱转基因绵羊模型和HD病例中观察到的早期亨廷顿氏病致病事件 Handley, Renee R.; Reid, Suzanne J.; Brauning, Rudiger; Maclean, Paul; Mears, Emily R.; Fourie, Imche; Patassini, Stefano; Cooper, Garth J. S.; Rudiger, Skye R.; McLaughlan, Clive J.; Verma, Paul J.; Gusella, James F.; MacDonald, Marcy E.; Waldvogel, Henry J.; Bawden, C. Simon; Faull, Richard L. M.; Snell, Russell G. 分享 收藏
Haplotype-based stratification of Huntington's disease Chao, Michael J.; Gillis, Tammy; Atwal, Ranjit S.; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H.; Kwak, Seung; Wheeler, Vanessa C.; MacDonald, Marcy E.; Gusella, James F.; Lee, Jong-Min 分享 收藏
A modifier of Huntington's disease onset at the MLH1 locus 亨廷顿舞蹈病在MLH1位点发作的修饰因子 Lee, Jong-Min; Chao, Michael J.; Harold, Denise; Abu Elneel, Kawther; Gillis, Tammy; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H.; Kwak, Seung; Wheeler, Vanessa C.; MacDonald, Marcy E.; Gusella, James F. 分享 收藏
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