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Journal Abstract Search

339 related items for PubMed ID: 25958344

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 15; 136(Pt 11):3395-407. PubMed ID: 24065723
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 96(1):53-60. PubMed ID: 30891739
    [Abstract] [Full Text] [Related]

  • 4. Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.
    Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, Musarra M, Patassini M, Annesi G, Ferrarese C.
    Neurodegener Dis; 2014 Jul 15; 14(3):133-8. PubMed ID: 25348593
    [Abstract] [Full Text] [Related]

  • 5. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
    Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, Ishiura H, Mitsui J, Atsuta N, Sobue G, Shimozawa N, Inuzuka T, Tsuji S, Hozumi I.
    Neurology; 2014 Feb 25; 82(8):705-12. PubMed ID: 24463626
    [Abstract] [Full Text] [Related]

  • 6. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
    Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G.
    Neurogenetics; 2013 Feb 25; 14(1):11-22. PubMed ID: 23334463
    [Abstract] [Full Text] [Related]

  • 7. Primary familial brain calcification: Genetic analysis and clinical spectrum.
    Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli PL, Breedveld GJ, Scaglione C, Martinelli P, Federico A, Bonifati V, Dotti MT.
    Mov Disord; 2014 Nov 25; 29(13):1691-5. PubMed ID: 25284758
    [Abstract] [Full Text] [Related]

  • 8. Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.
    Kimura T, Miura T, Aoki K, Saito S, Hondo H, Konno T, Uchiyama A, Ikeuchi T, Takahashi H, Kakita A.
    Neuropathology; 2016 Aug 25; 36(4):365-71. PubMed ID: 26635128
    [Abstract] [Full Text] [Related]

  • 9. 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 25; 36(5):489-95. PubMed ID: 25726928
    [Abstract] [Full Text] [Related]

  • 10. [Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene].
    Zhu M, Fang C, Li X, Zhou M, Wan H, Hong D.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb 25; 32(1):64-8. PubMed ID: 25636102
    [Abstract] [Full Text] [Related]

  • 11. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
    Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK.
    Eur J Med Genet; 2015 Nov 25; 58(11):624-8. PubMed ID: 26475232
    [Abstract] [Full Text] [Related]

  • 12. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.
    Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A.
    Mov Disord; 2016 Dec 25; 31(12):1901-1904. PubMed ID: 27671522
    [Abstract] [Full Text] [Related]

  • 13. 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 25; 40(4):392-403. PubMed ID: 30609140
    [Abstract] [Full Text] [Related]

  • 14. Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
    Chen WJ, Yao XP, Zhang QJ, Ni W, He J, Li HF, Liu XY, Zhao GX, Murong SX, Wang N, Wu ZY.
    Gene; 2013 Oct 15; 529(1):159-62. PubMed ID: 23939468
    [Abstract] [Full Text] [Related]

  • 15. Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1).
    Hozumi I, Kurita H, Ozawa K, Furuta N, Inden M, Sekine SI, Yamada M, Hayashi Y, Kimura A, Inuzuka T, Seishima M.
    J Neurol Sci; 2018 May 15; 388():150-154. PubMed ID: 29627011
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 233(3):2324-2331. PubMed ID: 28722801
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 168(7):586-94. PubMed ID: 26129893
    [Abstract] [Full Text] [Related]

  • 18. Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
    Zhang Y, Guo X, Wu A.
    PLoS One; 2013 Oct 15; 8(2):e57060. PubMed ID: 23437308
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
    Huang YT, Zhang LH, Li MF, Cheng L, Zou GY, Zhou HH.
    Brain Res Bull; 2019 Aug 15; 150():261-265. PubMed ID: 30634018
    [Abstract] [Full Text] [Related]

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