SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Idiopathic Basal Ganglia Calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from t...

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Autors principals: Baker, Matt, Strongosky, Audrey J., Sanchez-Contreras, Monica Y., Yang, Shan, Ferguson, Will, Calne, Donald B., Calne, Susan, Stoessl, A. Jon, Allanson, Judith E., Broderick, Daniel F., Hutton, Michael L., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3969760/
https://ncbi.nlm.nih.gov/pubmed/24135862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-013-0378-5
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