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Items: 6

1.
The clinical and genetic spectrum of primary familial brain calcification
Miryam Carecchio, Michele Mainardi, Giulia Bonato
J Neurol. 2023; 270(6): 3270–3277. Published online 2023 Mar 2. doi: 10.1007/s00415-023-11650-0
PMCID:
PMC10188400
AbstractArticlePDF–751K
2.
SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report
Meiying Li, Qin Fu, Liangxu Xiang, Yingwei Zheng, Wenjing Ping, Yongjun Cao
BMC Neurol. 2022; 22: 438. Published online 2022 Nov 17. doi: 10.1186/s12883-022-02973-y
PMCID:
PMC9670500
AbstractArticlePDF–1.4M
3.
Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features
Giulia Donzuso, Giovanni Mostile, Alessandra Nicoletti, Mario Zappia
Neurol Sci. 2019; 40(11): 2251–2263. Published online 2019 Jul 2. doi: 10.1007/s10072-019-03998-x
Correction in:
Neurol Sci. 2019; 40(11): 2265.
PMCID:
PMC6817747
AbstractArticlePDF–587K
4.
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells
Shin-ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, Yuhei Ninomiya, Hisaka Kurita, Masatoshi Inden, Megumi Yamada, Yuichi Hayashi, Takashi Inuzuka, Jun Mitsui, Hiroyuki Ishiura, Atsushi Iwata, Hiroto Fujigasaki, Hisamitsu Tamaki, Ryusei Tamaki, Shinsuke Kito, Yoshiharu Taguchi, Kortaro Tanaka, Naoki Atsuta, Gen Sobue, Takayuki Kondo, Haruhisa Inoue, Shoji Tsuji, Isao Hozumi
Sci Rep. 2019; 9: 5698. Published online 2019 Apr 5. doi: 10.1038/s41598-019-42115-y
PMCID:
PMC6450963
AbstractArticlePDF–2.0M
5.
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
Xulai Shi, Feixia Zheng, Xiuyun Ye, Xiucui Li, Qianlei Zhao, Zhongdong Lin, Ying Hu, Jiwen Wang
Medicine (Baltimore) 2018 Apr; 97(15): e0316. Published online 2018 Apr 13. doi: 10.1097/MD.0000000000010316
PMCID:
PMC5908570
AbstractArticlePDF–246K
6.
Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1
M. P. Keasey, R. R. Lemos, T. Hagg, J. R. M. Oliveira
Sci Rep. 2016; 6: 25802. Published online 2016 May 17. doi: 10.1038/srep25802
PMCID:
PMC4868979
AbstractArticlePDF–904K

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