CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 prog...
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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EPM1 is the most common form of Progressive Myoclonus Epilepsy characterized by late-childhood onset, ever-worsening and disabling myoclonus, seizures, ataxia, psychiatric disease, and shortened lifespan. EPM1 is caused by expansions of a dodecamer repeat sequence in the promoter of
CSTB
(cystatin B), which dramatically reduces, but does not...
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CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
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TN_cdi_proquest_miscellaneous_2905528041
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2905528041
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ISSN
0969-7128,1476-5462
E-ISSN
1476-5462
DOI
10.1038/s41434-023-00433-x
