A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients-Reference-Cited by-同舟云学术

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

Published:2018-04-05 Issue:7 Volume:131 Page:799-803
ISSN:0366-6999
Container-title:Chinese Medical Journal
language:en
Short-container-title:

Author:

Ding Yan,Dong Hui-Qing

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference28 articles.

1. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification;Nicolas;Brain,2013

2. Brain calcification and movement disorders;Kostić;Curr Neurol Neurosci Rep,2017

3. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan;Yamada;Neurology,2014

4. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification;Hsu;Neurogenetics,2013

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

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