Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A.
作者信息
Onder Halil, Vural Atay, Duzkale Neslihan, Kocer Bilge, Comoglu Selcuk
机构信息
Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey.
Koc University School of Medicine, Koc University Research Center for Translational Medicine (KUTTAM), Istanbul, Turkey.
出版信息
J Neurol. 2022 Jun;269(6):3343-3346. doi: 10.1007/s00415-021-10924-9. Epub 2022 Jan 9.
PMID:34999958
Abstract
摘要
Zotero 插件