Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference25 articles.
1. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations;Schneider;Mov. Disord.,2012
2. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA);Schneider;Curr. Neuropharmacol.,2013
3. Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron;Colombelli;J. Inherit. Metab. Dis.,2015
4. Clinical and genetic delineation of neurogedeneration with brain iron accumulation;Gregory;J. Med. Genet.,2009
5. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome;Hayflick;N. Engl. J. Med.,2003
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