Neuroacanthocytosis Syndromes: The Clinical Perspective

The two very rare neurodegenerative diseases historically known as the “neuroacanthocytosis syndromes” are due to mutations of either VPS13A or XK. These are phenotypically similar disorders that affect primarily the basal ganglia and hence result in involuntary abnormal movements as well as neurops...

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Vydané v:	Contact Ročník 6; s. 25152564231210339
Hlavní autori:	Walker, Ruth H., Peikert, Kevin, Jung, Hans H., Hermann, Andreas, Danek, Adrian
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Los Angeles, CA SAGE Publications 01.01.2023 Sage Publications Ltd SAGE Publishing
Predmet:	Abnormalities Basal ganglia Cell membranes Chorea Cognitive ability Disorders Ganglia Lipids Neurodegenerative diseases Therapeutic applications VPS13A chorea BLTP acanthocytosis XK lipid
ISSN:	2515-2564, 2515-2564
On-line prístup:	Získať plný text
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