Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
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Published:2013-08-04
Issue:9
Volume:45
Page:1077-1082
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Keller Annika, Westenberger Ana, Sobrido Maria J, García-Murias Maria, Domingo Aloysius, Sears Renee L, Lemos Roberta R, Ordoñez-Ugalde Andres, Nicolas Gael, da Cunha José E Gomes, Rushing Elisabeth J, Hugelshofer Michael, Wurnig Moritz C, Kaech Andres, Reimann Regina, Lohmann Katja, Dobričić Valerija, Carracedo Angel, Petrović Igor, Miyasaki Janis M, Abakumova Irina, Mäe Maarja Andaloussi, Raschperger Elisabeth, Zatz Mayana, Zschiedrich Katja, Klepper Jörg, Spiteri Elizabeth, Prieto Jose M, Navas Inmaculada, Preuss Michael, Dering Carmen, Janković Milena, Paucar Martin, Svenningsson Per, Saliminejad Kioomars, Khorshid Hamid R K, Novaković Ivana, Aguzzi Adriano, Boss Andreas, Le Ber Isabelle, Defer Gilles, Hannequin Didier, Kostić Vladimir S, Campion Dominique, Geschwind Daniel H, Coppola GiovanniORCID, Betsholtz Christer, Klein Christine, Oliveira Joao R M
Publisher
Springer Science and Business Media LLC
Reference36 articles.
1. Förstl, H., Krumm, B., Eden, S. & Kohlmeyer, K. Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation. J. Neurol. 239, 36–38 (1992). 2. Yamada, M. et al. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr. Gerontol. Int. 13, 706–710 (2013). 3. Oliveira, J.R.M.D. Managing Idiopathic Basal Ganglia Calcification (“Fahr's Disease”) (Nova Science Publishers, New York, 2011). 4. Wang, C. et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat. Genet. 44, 254–256 (2012). 5. Hsu, S.C. et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14, 11–22 (2013).
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