Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
作者信息
Quiroz Vicente, Planas-Serra Laura, Sveden Abigail, Tam Amy, Kim Hyo-Min, Zubair Umar, Resch Dario, Saffari Afshin, Danzi Matt C, Züchner Stephan, Chopra Maya, Schierbaum Luca, Pujol Aurora, Eklund Erik A, Ebrahimi-Fakhari Darius
机构信息
Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Neurometabolic Diseases, IDIBELL, Barcelona, Spain.
出版信息
J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919.
Abstract
摘要
Zotero 插件