Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c. <scp>902C</scp> >T/p. <scp>P307L</scp> ) in <scp> <i>SLC20A2</i> </scp> showing widespread cerebrovascular lesions-Reference-Cited by-同舟云学术

Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c. 902C >T/p. P307L ) in SLC20A2 showing widespread cerebrovascular lesions

Published:2022-01-13 Issue:2 Volume:42 Page:126-133
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Sakai Kenji¹^ORCID,Ishida Chiho²^ORCID,Hayashi Koji¹²³,Tsuji Naotaka³,Kannon Takayuki³,Hosomichi Kazuyoshi³,Takei Nobuyuki⁴,Kakita Akiyoshi⁵,Tajima Atsushi³^ORCID,Yamada Masahito¹

Affiliation:

1. Department of Neurology and Neurobiology of Aging Kanazawa University Graduate School of Medical Sciences Kanazawa Japan

2. Department of Neurology National Hospital Organization Iou National Hospital Kanazawa Japan

3. Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences Kanazawa University Kanazawa Japan

4. Department of Brain Tumor Biology, Brain Research Institute Niigata University Niigata Japan

5. Department of Pathology, Brain Research Institute Niigata University Niigata Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12781

Reference26 articles.

1. Dystonia and calcification of the basal ganglia

2. Autosomal dominant dystonia-plus with cerebral calcifications

3. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

4. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

5. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

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. Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis;Brain Pathology;2023-07-28

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