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Journal Abstract Search

330 related items for PubMed ID: 30979360

  • 21. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
    Batla A, Tai XY, Schottlaender L, Erro R, Balint B, Bhatia KP.
    Parkinsonism Relat Disord; 2017 Apr; 37():1-10. PubMed ID: 28162874
    [Abstract] [Full Text] [Related]

  • 22. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
    Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D, French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.
    Eur J Hum Genet; 2018 Oct; 26(10):1462-1477. PubMed ID: 29955172
    [Abstract] [Full Text] [Related]

  • 23. MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
    Chen Y, Cen Z, Chen X, Wang H, Chen S, Yang D, Fu F, Wang L, Liu P, Wu H, Zheng X, Xie F, Ouyang Z, Zhang Y, Zhou Y, Huang X, Wang F, Huang G, An H, Liang Y, Hong W, Wang A, Huang S, Chen W, Yin L, Yang Y, Huang H, Zeng R, Zhao N, Jiang B, Zhang B, Luo W, Chinese PFBC Study Group.
    Mov Disord; 2020 Apr; 35(4):679-686. PubMed ID: 31951047
    [Abstract] [Full Text] [Related]

  • 24. Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
    Pasanen P, Mäkinen J, Myllykangas L, Guerreiro R, Bras J, Valori M, Viitanen M, Baumann M, Tienari PJ, Pöyhönen M, Baumann P.
    Acta Neurol Scand; 2017 Jul; 136(1):59-63. PubMed ID: 27726124
    [Abstract] [Full Text] [Related]

  • 25. The genetics of primary familial brain calcifications.
    Westenberger A, Klein C.
    Curr Neurol Neurosci Rep; 2014 Oct; 14(10):490. PubMed ID: 25212438
    [Abstract] [Full Text] [Related]

  • 26. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
    Magistrelli L, Croce R, De Marchi F, Basagni C, Carecchio M, Nasuelli N, Cantello R, Invernizzi F, Garavaglia B, Comi C, Mazzini L, D'Alfonso S, Corrado L.
    Neurogenetics; 2021 Mar; 22(1):65-70. PubMed ID: 33471268
    [Abstract] [Full Text] [Related]

  • 27. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.
    Taglia I, Formichi P, Battisti C, Peppoloni G, Barghigiani M, Tessa A, Federico A.
    J Cell Physiol; 2018 Mar; 233(3):2324-2331. PubMed ID: 28722801
    [Abstract] [Full Text] [Related]

  • 28. Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.
    Wang C, Yao XP, Chen HT, Lai JH, Guo XX, Su HZ, Dong EL, Zhang QJ, Wang N, Chen WJ.
    J Hum Genet; 2017 Jul; 62(7):697-701. PubMed ID: 28298627
    [Abstract] [Full Text] [Related]

  • 29. Identification of SLC20A2 deletions in patients with primary familial brain calcification.
    Guo XX, Su HZ, Zou XH, Lai LL, Lu YQ, Wang C, Li YL, Hong JM, Zhao M, Lin KX, Lin J, Zeng YH, Yao XP, Wang N, Chen WJ.
    Clin Genet; 2019 Jul; 96(1):53-60. PubMed ID: 30891739
    [Abstract] [Full Text] [Related]

  • 30. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
    Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A.
    Mov Disord; 2021 Nov; 36(11):2468-2480. PubMed ID: 34432325
    [Abstract] [Full Text] [Related]

  • 31. Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
    Koyama S, Sato H, Kobayashi R, Kawakatsu S, Kurimura M, Wada M, Kawanami T, Kato T.
    Sci Rep; 2017 Sep 21; 7(1):12046. PubMed ID: 28935882
    [Abstract] [Full Text] [Related]

  • 32. A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
    Yao XJ, Chen Q, Yu HP, Ruan DD, Li SJ, Wu M, Liao LS, Lin XF, Fang ZT, Luo JW, Xie BS.
    BMC Pulm Med; 2024 Jul 16; 24(1):343. PubMed ID: 39014333
    [Abstract] [Full Text] [Related]

  • 33. Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.
    Ramos EM, Roca A, Chumchim N, Dokuru DR, Van Berlo V, De Michele G, Lieto M, Tedeschi E, De Michele G, Coppola G.
    Neurogenetics; 2019 May 16; 20(2):99-102. PubMed ID: 30895394
    [Abstract] [Full Text] [Related]

  • 34. Primary familial brain calcifications.
    Quintáns B, Oliveira J, Sobrido MJ.
    Handb Clin Neurol; 2018 May 16; 147():307-317. PubMed ID: 29325620
    [Abstract] [Full Text] [Related]

  • 35. Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
    Yao XP, Zhao M, Wang C, Guo XX, Su HZ, Dong EL, Chen HT, Lai JH, Liu YB, Wang N, Chen WJ.
    Cell Tissue Res; 2017 Nov 16; 370(2):267-273. PubMed ID: 28766044
    [Abstract] [Full Text] [Related]

  • 36. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
    Lemos RR, Ramos EM, Legati A, Nicolas G, Jenkinson EM, Livingston JH, Crow YJ, Campion D, Coppola G, Oliveira JR.
    Hum Mutat; 2015 May 16; 36(5):489-95. PubMed ID: 25726928
    [Abstract] [Full Text] [Related]

  • 37. XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.
    Moura DA, Oliveira JR.
    J Mol Neurosci; 2015 Dec 16; 57(4):519-21. PubMed ID: 26231937
    [Abstract] [Full Text] [Related]

  • 38. MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
    Bauer M, Rahat D, Zisman E, Tabach Y, Lossos A, Meiner V, Arkadir D.
    Curr Neurol Neurosci Rep; 2019 Aug 23; 19(10):70. PubMed ID: 31440850
    [Abstract] [Full Text] [Related]

  • 39. XPR1 mutations are a rare cause of primary familial brain calcification.
    Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G.
    J Neurol; 2016 Aug 23; 263(8):1559-64. PubMed ID: 27230854
    [Abstract] [Full Text] [Related]

  • 40. Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.
    Locci S, Bianchi S, De Stefano N, Mignarri A.
    Neurol Sci; 2022 Oct 23; 43(10):6091-6093. PubMed ID: 35750946
    [Abstract] [Full Text] [Related]

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