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Journal Abstract Search

189 related items for PubMed ID: 9065541

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. [Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report].
    Yamada N, Hayashi T.
    No To Hattatsu; 2000 Nov; 32(6):515-9. PubMed ID: 11144166
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia.
    McLeod DR, Hanley DA, McArthur RG.
    Am J Med Genet; 1989 Jan 01; 32(1):32-5. PubMed ID: 2705481
    [Abstract] [Full Text] [Related]

  • 6. [Familial strio-pallido++-dentate calcification].
    Prieto JM, Pardellas H, Sobrido MJ, Lema M, Dapena D, Castro A.
    Rev Neurol; 1997 Aug 01; 25(144):1213-5. PubMed ID: 9340152
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. [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 01; 32(1):64-8. PubMed ID: 25636102
    [Abstract] [Full Text] [Related]

  • 9. Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.
    Chen Y, Fu F, Chen S, Cen Z, Tang H, Huang J, Xie F, Zheng X, Yang D, Wang H, Huang X, Zhang Y, Zhou Y, Liu JY, Luo W.
    Mov Disord; 2019 Feb 01; 34(2):291-297. PubMed ID: 30589467
    [Abstract] [Full Text] [Related]

  • 10. Adult onset idiopathic familial brain calcifications.
    Harati Y, Jackson JA, Benjamin E.
    Arch Intern Med; 1984 Dec 01; 144(12):2425-7. PubMed ID: 6508450
    [Abstract] [Full Text] [Related]

  • 11. The first Japanese case of primary familial brain calcification caused by an MYORG variant.
    Kume K, Takata T, Morino H, Matsuda Y, Ohsawa R, Tada Y, Kurashige T, Kawakami H.
    J Hum Genet; 2020 Oct 01; 65(10):917-920. PubMed ID: 32451491
    [Abstract] [Full Text] [Related]

  • 12. Novel likely pathogenic SLC20A variant in primary familial brain calcification.
    Sharma R, Stitt D.
    BMJ Case Rep; 2022 Mar 02; 15(3):. PubMed ID: 35236675
    [Abstract] [Full Text] [Related]

  • 13. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
    Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G, SYNAPS Study GroupDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK., Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H.
    Am J Hum Genet; 2020 Mar 05; 106(3):412-421. PubMed ID: 32142645
    [Abstract] [Full Text] [Related]

  • 14. What is and what is not 'Fahr's disease'.
    Manyam BV.
    Parkinsonism Relat Disord; 2005 Mar 05; 11(2):73-80. PubMed ID: 15734663
    [Abstract] [Full Text] [Related]

  • 15. Familial basal ganglia calcifications visualized by computerized tomography.
    Okada J, Takeuchi K, Ohkado M, Hoshina K.
    Acta Neurol Scand; 1981 Oct 05; 64(4):273-9. PubMed ID: 7315196
    [Abstract] [Full Text] [Related]

  • 16. [Familial idiopathic striato-pallido-dentate calcifications: clinical and brain imaging study in a family].
    Le Ber I, Marié RM, Lalevée C, Chabot B, Allouche S, Defer GL.
    Rev Neurol (Paris); 2003 Jan 05; 159(1):43-9. PubMed ID: 12618652
    [Abstract] [Full Text] [Related]

  • 17. Familial idiopathic cerebral calcifications.
    Boller F, Boller M, Gilbert J.
    J Neurol Neurosurg Psychiatry; 1977 Mar 05; 40(3):280-5. PubMed ID: 886353
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 136(Pt 11):3395-407. PubMed ID: 24065723
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 20.
    Amisha F, Munakomi S.
    ; 2024 01 12. PubMed ID: 32809692
    [Abstract] [Full Text] [Related]

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