A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
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| Published in | Brain (London, England : 1878) Vol. 142; no. 2; p. e4 |
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| Main Authors | , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
01.02.2019
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| Online Access | Get full text |
| ISSN | 0006-8950 1460-2156 1460-2156 |
| DOI | 10.1093/brain/awy343 |
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| Author | Forouhideh, Yalda Uttner, Ingo Assi, Muhannad Şeker, Tuncay Gorges, Martin Ludolph, Albert C Tunca, Ceren Meitinger, Thomas Müller, Kathrin Knehr, Antje Ruf, Wolfgang Kassubek, Jan Pinkhardt, Elmar H Weishaupt, Jochen H Strom, Tim M Başak, A Nazlı Schradt, Falk |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30649222$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/nn.4000 10.1038/ng.1077 10.1093/brain/awt255 10.1212/WNL.0b013e31827ccf34 10.1038/ng.3289 10.1038/ng.2723 10.1016/j.neuron.2018.05.037 |
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| Copyright | The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email: journals.permissions@oup.com 2019 |
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| References | Freischmidt ( key 2019013002593717800_awy343-B2) 2015; 18 Wang ( key 2019013002593717800_awy343-B7) 2012; 44 Keller ( key 2019013002593717800_awy343-B3) 2013; 45 Legati ( key 2019013002593717800_awy343-B4) 2015; 47 Yao ( key 2019013002593717800_awy343-B8) 2018; 98 Nicolas ( key 2019013002593717800_awy343-B6) 2013; 80 Fahr ( key 2019013002593717800_awy343-B1) 1931; 50 Nicolas ( key 2019013002593717800_awy343-B5) 2013; 136 |
| References_xml | – volume: 18 start-page: 631 year: 2015 ident: key 2019013002593717800_awy343-B2 article-title: Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia publication-title: Nat Neurosci doi: 10.1038/nn.4000 – volume: 50 start-page: 129 year: 1931 ident: key 2019013002593717800_awy343-B1 article-title: Idiopathische Verkalkung der Hirngefäße publication-title: Zentbl Allg Path Anat – volume: 44 start-page: 254 year: 2012 ident: key 2019013002593717800_awy343-B7 article-title: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis publication-title: Nat Genet doi: 10.1038/ng.1077 – volume: 136 start-page: 3395 year: 2013 ident: key 2019013002593717800_awy343-B5 article-title: Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification publication-title: Brain doi: 10.1093/brain/awt255 – volume: 80 start-page: 181 year: 2013 ident: key 2019013002593717800_awy343-B6 article-title: Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification publication-title: Neurology doi: 10.1212/WNL.0b013e31827ccf34 – volume: 47 start-page: 579 year: 2015 ident: key 2019013002593717800_awy343-B4 article-title: Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export publication-title: Nat Genet doi: 10.1038/ng.3289 – volume: 45 start-page: 1077 year: 2013 ident: key 2019013002593717800_awy343-B3 article-title: Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice publication-title: Nat Genet doi: 10.1038/ng.2723 – volume: 98 start-page: 1116 year: 2018 ident: key 2019013002593717800_awy343-B8 article-title: Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification publication-title: Neuron doi: 10.1016/j.neuron.2018.05.037 |
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| Title | A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification |
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