학술논문
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Document Type
Journal Article
Author
Zambonin, Jessica L.; Bellomo, Allison; Hilla Ben-Pazi; Everman, David B.; Frazer, Lee M.; Geraghty, Michael T.; Harper, Amy D.; Jones, Julie R.; Kamien, Benjamin; Kernohan, Kristin; Koenig, Mary Kay; Lines, Matthew; Palmer, Elizabeth Emma; Richardson, Randal; Segel, Reeval; Tarnopolsky, Mark; Vanstone, Jason R.; Gibbons, Melissa; Collins, Abigail; Fogel, Brent L.
Source
Subject
*SPINOCEREBELLAR ataxia
*CEREBELLUM degeneration
*SPINAL cord diseases
*GENETIC mutation
*BRAIN imaging
*CEREBELLAR ataxia
*PROTEINS
*RESEARCH funding
*RETROSPECTIVE studies
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Language
ISSN
1750-1172
Abstract