Severe vascular disturbance in a case of familial brain calcinosis.
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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain CalcificationHow does Zika virus cause microcephaly?Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation.Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiologySLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystoniaSlc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.Microstructure and mineral composition of dystrophic calcification associated with the idiopathic inflammatory myopathiesDiagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.Zika virus infection disrupts neurovascular development and results in postnatal microcephaly with brain damage.Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for Basal Ganglia calcification in hypoparathyroidism.Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.New Data from Pdfgb ret/ret Mutant Mice Might Lead to a Paradoxical Association Between Brain Calcification, Pericytes Recruitment and BBB Integrity.Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.SCL20A2 mutation presenting with acute ischemic stroke: a case report.Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.
P2860
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P2860
Severe vascular disturbance in a case of familial brain calcinosis.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Severe vascular disturbance in a case of familial brain calcinosis.
@en
Severe vascular disturbance in a case of familial brain calcinosis.
@nl
type
label
Severe vascular disturbance in a case of familial brain calcinosis.
@en
Severe vascular disturbance in a case of familial brain calcinosis.
@nl
prefLabel
Severe vascular disturbance in a case of familial brain calcinosis.
@en
Severe vascular disturbance in a case of familial brain calcinosis.
@nl
P2093
P1476
Severe vascular disturbance in a case of familial brain calcinosis.
@en
P2093
Andis Klegeris
Ian R Mackenzie
Judit Miklossy
Katerina Dorovini-Zis
Patrick L McGeer
P2860
P2888
P304
P356
10.1007/S00401-005-1007-7
P577
2005-06-04T00:00:00Z