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Journal Abstract Search

715 related items for PubMed ID: 24065723

  • 1. 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; 136(Pt 11):3395-407. PubMed ID: 24065723
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  • 2. 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; 168(7):586-94. PubMed ID: 26129893
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  • 3. 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 Oct; 14(3):133-8. PubMed ID: 25348593
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  • 5. 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; 36(4):365-71. PubMed ID: 26635128
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  • 10. [Molecular mechanism of idiopathic basal ganglia calcification].
    Wang C, Xu X, Li LL, Wang T, Zhang M, Shen L, Tang BS, Liu JY.
    Yi Chuan; 2015 Aug; 37(8):731-40. PubMed ID: 26353387
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  • 11. 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; 29(13):1691-5. PubMed ID: 25284758
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  • 16. 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; 14(1):11-22. PubMed ID: 23334463
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  • 19. A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
    Mathorne SW, Sørensen K, Fagerberg C, Bode M, Hertz JM.
    BMC Neurol; 2019 Apr 12; 19(1):60. PubMed ID: 30979360
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  • 20. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
    Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.
    Neurology; 2013 Jan 08; 80(2):181-7. PubMed ID: 23255827
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