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Journal Abstract Search

330 related items for PubMed ID: 30979360

  • 1.
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  • 2. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
    Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, Fu F, Chen X, Xie F, Liu P, Xu X, Cao J, Cai P, Pan Q, Li J, Yang W, Shan PF, Li Y, Liu JY, Zhang B, Luo W.
    Brain; 2020 Feb 01; 143(2):491-502. PubMed ID: 31851307
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  • 3. Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
    Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ.
    Hum Mutat; 2019 Apr 01; 40(4):392-403. PubMed ID: 30609140
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  • 4. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
    Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D, French IBGC Study Group.
    Brain; 2013 Nov 01; 136(Pt 11):3395-407. PubMed ID: 24065723
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  • 5. Primary familial brain calcification: update on molecular genetics.
    Taglia I, Bonifati V, Mignarri A, Dotti MT, Federico A.
    Neurol Sci; 2015 May 01; 36(5):787-94. PubMed ID: 25686613
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  • 6. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
    Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF, French PFBC study group, Frebourg T, Hannequin D, Campion D, Nicolas G.
    Brain; 2019 Jun 01; 142(6):1573-1586. PubMed ID: 31009047
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  • 7. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
    Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D, collaborators from the French IBGC study Group.
    Am J Med Genet B Neuropsychiatr Genet; 2015 Oct 01; 168(7):586-94. PubMed ID: 26129893
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  • 9. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
    Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R.
    Hum Mutat; 2014 Aug 01; 35(8):964-71. PubMed ID: 24796542
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  • 11. A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
    Gagliardi M, Morelli M, Annesi G, Nicoletti G, Perrotta P, Pustorino G, Iannello G, Tarantino P, Gambardella A, Quattrone A.
    Gene; 2015 Aug 15; 568(1):109-11. PubMed ID: 25958344
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  • 13. First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.
    Hayashi T, Legati A, Nishikawa T, Coppola G.
    Psychiatry Clin Neurosci; 2015 Feb 15; 69(2):77-83. PubMed ID: 25211641
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  • 19. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
    Nicolas G, Charbonnier C, Campion D, Veltman JA.
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan 15; 177(1):68-74. PubMed ID: 29152850
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