We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Complex Movement Disorders in a Boy with PURA Syndrome.
- Authors
Lin, Shan‐Ju; Lin, Yung‐Feng; Tsai, Cheng‐Hsien; Huang, Chiung‐Hui; Ho, Fangyi; Tsai, Shih‐Feng; Lin, Wei‐Sheng
- Abstract
Keywords: PURA syndrome; choreoathetosis; stereotypy EN PURA syndrome choreoathetosis stereotypy 1137 1139 3 10/05/21 20211001 NES 211001 PURA syndrome is a severe neurodevelopmental disorder named after its causative gene, the purine-rich element-binding protein A gene. Choreoathetosis, stereotypy, PURA syndrome Several animal studies provided hints at the potential mechanisms or neural substrates of movement disorders in PURA syndrome.
- Subjects
MOVEMENT disorders; SYNDROMES; WHOLE genome sequencing; CHILD patients; SPINAL muscular atrophy; PRADER-Willi syndrome
- Publication
Movement Disorders Clinical Practice, 2021, Vol 8, Issue 7, p1137
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13272