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Article

Norepinephrine transporter defects lead to sympathetic hyperactivity in stem cell and mouse models of Familial Dysautonomia

2021-11-24

Abstract excerpt

<title>Abstract</title> <p>Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disorder that affects the sympathetic nervous system. Patients harbor a mutation in ELP1 yet, how loss of Elp1 affects the function of symNs remains unresolved. Such an understanding is critical since the most debilitating hallmarks of the disease include cardiovascular instability, dysautonomic crises and ren...

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Literature Corpus work
10182086-f5bb-5577-a6e8-5cb1af2e026f
DOI
10.21203/rs.3.rs-1024649/v1
Open publication

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Norepinephrine transporter defects lead to sympathetic hyperactivity in stem cell and mouse models of Familial DysautonomiaDOI 10.21203/rs.3.rs-1024649/v1
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