Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
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Author / Creator
Dias, Cristina , McDonald, Allison , Sincan, Murat , Rupps, Rosemarie , Markello, Thomas , Salvarinova, Ramona , Santos, Rui F , Menghrajani, Kamal , Ahaghotu, Chidi , Sutherland, Darren P , Fortuno, 3rd, Edgardo S , Kollmann, Tobias R , Demos, Michelle , Friedman, Jan M , Speert, David P , Gahl, William A and Boerkoel, Cornelius F
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Inflammation is an important contributor to pediatric and adult neurodegeneration. Understanding the genetic determinants of neuroinflammation provides valuable insight into disease mechanism. We characterize a disorder of recurrent immune-mediated neurodegeneration. We report two sisters who presented with neurodegeneration triggered by infections...
Alternative Titles
Full title
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3798831
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3798831
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2013.20
