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Volumn 20, Issue 3, 2014, Pages 353-354

Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia

Author keywords

Basal ganglia; Dystonia; Genetics; Movement disorders

Indexed keywords

ANTINUCLEAR ANTIBODY; CALCIUM; CARBAMAZEPINE; CERULOPLASMIN; PARATHYROID HORMONE; PHOSPHORUS; THYROID HORMONE; SLC20A2 PROTEIN, HUMAN; SODIUM PHOSPHATE COTRANSPORTER 3;

EID: 84896388144     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.12.006     Document Type: Letter
Times cited : (26)

References (5)
  • 1
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    • Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
    • Hsu S.C., Sears R.L., Lemos R.R., Quintáns B., Huang A., Spiteri E., et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 2013, 14:11-22.
    • (2013) Neurogenetics , vol.14 , pp. 11-22
    • Hsu, S.C.1    Sears, R.L.2    Lemos, R.R.3    Quintáns, B.4    Huang, A.5    Spiteri, E.6
  • 2
    • 84890539576 scopus 로고    scopus 로고
    • 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., et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013, 136(Pt 11):3395-3407.
    • (2013) Brain , vol.136 , Issue.PART 11 , pp. 3395-3407
    • Nicolas, G.1    Pottier, C.2    Charbonnier, C.3    Guyant-Maréchal, L.4    Le Ber, I.5    Pariente, J.6
  • 3
    • 84867846765 scopus 로고    scopus 로고
    • A case of paroxysmal kinesigenic dyskinesia inidiopathic bilateral striopallidodentate calcinosis
    • Chung E.J., Cho G.N., Kim S.J. A case of paroxysmal kinesigenic dyskinesia inidiopathic bilateral striopallidodentate calcinosis. Seizure 2012, 21:802-804.
    • (2012) Seizure , vol.21 , pp. 802-804
    • Chung, E.J.1    Cho, G.N.2    Kim, S.J.3
  • 4
    • 84862798098 scopus 로고    scopus 로고
    • Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
    • Wang C., Li Y., Shi L., Ren J., Patti M., Wang T., et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012, 44:254-256.
    • (2012) Nat Genet , vol.44 , pp. 254-256
    • Wang, C.1    Li, Y.2    Shi, L.3    Ren, J.4    Patti, M.5    Wang, T.6
  • 5
    • 80053969208 scopus 로고    scopus 로고
    • Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients
    • Bonazza S., La Morgia C., Martinelli P., Capellari S. Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients. Neurol Sci 2011, 32:537-545.
    • (2011) Neurol Sci , vol.32 , pp. 537-545
    • Bonazza, S.1    La Morgia, C.2    Martinelli, P.3    Capellari, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.