Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2015. ,
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature genetics 2012 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification, Neurology, vol.380, pp.181-187, 2013. ,
PDGFB mutations cause brain calcifications in humans and mice Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature genetics 2015. 6. Nicolas G, Rovelet-Lecrux A, Pottier C, et al. PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy, Nature genetics Journal of molecular neuroscience : MN, vol.53, pp.171-175, 2013. ,
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia, neurogenetics, vol.80, issue.2, 2013. ,
DOI : 10.1007/s10048-013-0378-5
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification, PLOS ONE, vol.17, issue.Pt 1, p.143407, 2015. ,
DOI : 10.1371/journal.pone.0143407.s006
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification, Brain, vol.136, issue.11, pp.3395-3407, 2013. ,
DOI : 10.1093/brain/awt255
URL : https://hal.archives-ouvertes.fr/hal-01133847
Fast and accurate long-read alignment with Burrows-Wheeler transform The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data CANOES: detecting rare copy number variants from whole exome sequencing data, Bioinformatics Genome research Nucleic acids research, vol.262042, issue.12, pp.589-5951297, 2010. ,
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life, Neurogenetics Psychiatric Genetics BMC biochemistry, vol.1416812, issue.15, pp.586-59421, 2011. ,