De novo REEP2 missense mutation in pure hereditary spastic paraplegia
Author:
Affiliation:
1. Neuromuscular Medicine; Department of Neurology; Johns Hopkins University School of Medicine; Baltimore Maryland
2. Neurogenetics Branch; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Bethesda Maryland
Funder
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Reference18 articles.
1. Cellular pathways of hereditary spastic paraplegia;Blackstone;Annu Rev Neurosci,2012
2. Hereditary spastic paraplegia: clinical and genetic hallmarks;Souza;Cerebellum,2017
3. Hereditary spastic paraplegia: clinical principles and genetic advances;Fink;Semin Neurol,2014
4. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology;Tesson;Hum Genet,2015
5. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network;Park;J Clin Invest,2010
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