Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alexander Linsalata"'
Autor:
Ha Eun, Kong, Junghwa, Lim, Alexander, Linsalata, Yunhee, Kang, Indranil, Malik, Emily G, Allen, Yiqu, Cao, Lisa, Shubeck, Rich, Johnston, Yanting, Huang, Yanghong, Gu, Xiangxue, Guo, Michael E, Zwick, Zhaohui, Qin, Thomas S, Wingo, Jorge, Juncos, David L, Nelson, Michael P, Epstein, David J, Cutler, Peter K, Todd, Stephanie L, Sherman, Stephen T, Warren, Peng, Jin
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(22)
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a debilitating late-onset neurodegenerative disease in premutation carriers of the expanded CGG repeat in FMR1 that presents with a spectrum of neurological manifestations, such as gait ataxia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41085d2235672607c137326ca7ff6f70
https://pubmed.ncbi.nlm.nih.gov/35617426
https://pubmed.ncbi.nlm.nih.gov/35617426
Autor:
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Significance Expansion of 55-200 CGG repeats in the 5′ untranslated region of FMR1 predisposes carriers to fragile X–associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. FXTAS demonstrates incomplete penetrance, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1df20e3bb38f81d058ee328019f3f9f3
https://doi.org/10.1073/pnas.2118124119
https://doi.org/10.1073/pnas.2118124119