A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant-Reference-Cited by-同舟云学术

A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant

Published:2023-08 Issue: Volume:451 Page:120732
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Orimo Kenta,Kakumoto Toshiyuki,Hara Ryo,Goto Ryoji,Ishiura Hiroyuki,Mitsui Jun,Yoshida Chiharu,Uesaka Yoshikazu,Suzuki Yuta,Morishita Shinichi,Satake Wataru,Tsuji Shoji,Toda Tatsushi

Funder

Japan Agency for Medical Research and Development

Government of Japan Ministry of Education Culture Sports Science and Technology

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference11 articles.

1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export;Legati;Nat. Genet.,2015

2. Genotype–phenotype relations in primary familial brain calcification: systematic MDSGene review;Balck;Mov. Disord.,2021

3. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1;Ichikawa;J. Neurol. Sci.,2013

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

5. Primary brain calcification: an international study reporting novel variants and associated phenotypes;Ramos;Eur. J. Hum. Genet.,2018

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. Structural insights into the mechanism of phosphate recognition and transport by human XPR1;2024-08-29

2. Structural insights into the mechanism of phosphate recognition and transport by human XPR1;2024-08-20