A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification-Reference-Cited by-同舟云学术

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A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification

Published:2021-11 Issue: Volume:92 Page:83-87
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Duan Ruo-Nan,Zhao Dan-Dan,Liu Yi-Ming,Yan Chuan-Zhu

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference20 articles.

1. Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification;Guo;Hum. Mutat.,2019

2. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice;Keller;Nat. Genet.,2013

3. PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy;Nicolas;J. Mol. Neurosci.,2014

4. Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions;Tang;Brain Dev.,2021

5. Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia;Zhu;Park. Relat. Disord.,2014

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants;Neurologia i Neurochirurgia Polska;2023-12-29

2. The Pathology of Primary Familial Brain Calcification: Implications for Treatment;Neuroscience Bulletin;2022-12-05

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