Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and t...

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Hauptverfasser: Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023541/
https://ncbi.nlm.nih.gov/pubmed/23334463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-012-0349-2
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