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Mechanisms underlying the development and aging of neurons in the cerebellum. Discovered that an expanded CAG trinucleotide repeat causes spinocerebellar ataxia type 1 (SCA1). Established the first transgenic mouse model of a polyglutamine neurodegenerative disease and using it to elucidate SCA1 pathogenesis. Demonstrated the importance of nuclear localization of the mutant protein for pathogenesis and demonstrated that sequences beyond the CAG expansion are critical for selectivity of neuronal susceptibility.
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论文共 253 篇作者统计合作学者相似作者
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Leon Tejwani,Neal G. Ravindra,Changwoo Lee, Yubao Cheng, Billy Nguyen,Kimberly Luttik, Luhan Ni,Shupei Zhang,Logan M. Morrison,John Gionco,Yangfei Xiang,Jennifer Yoon,
Lisa Duvick, W Michael Southern,Kellie A Benzow, Zoe N Burch,Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler,Orion Rainwater,
JCI insight (2024)
bioRxiv : the preprint server for biology (2023)
Ivan Tkac, Tiankai Xie, Nitya Shah,Sarah Larson,Janet M. Dubinsky,Rocio Gomez-Pastor,Hayley S. McLoughlin,Harry T. Orr,Lynn E. Eberly,Gulin Oz
Frontiers in Neuroscience (2023): 1278828
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bioRxiv : the preprint server for biology (2023)
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Journal of the International Neuropsychological Societyno. s1 (2023): 570-571
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Human molecular geneticsno. 16 (2023): 2545-2557
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Lisa Duvick,W. Michael Southern,Kellie Benzow,Hillary P. Handler,Jason S, Mitchell, Hannah Kuivinen, Udaya Keerthy Gadiparthi,Praseuth Yang,Alyssa Soles, Carrie Scheeler,Orion Rainwater,Shannah Serres,
biorxiv(2023)
Lisa Duvick, W Michael Southern, Kellie Benzow, Zoe N Burch,Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Keerthy Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie Scheeler,Orion Rainwater,
bioRxiv : the preprint server for biology (2023)
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Stephanie L. Coffin,Mark A. Durham,Larissa Nitschke,Eder Xhako,Amanda M. Brown,Jean-Pierre Revelli, Esmeralda Villavicencio Gonzalez,Tao Lin,Hillary P. Handler,Yanwan Dai,Alexander J. Trostle,Ying-Wooi Wan,
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