GBE1 ‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
Author:
Affiliation:
1. Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery Federal University of São Paulo (UNIFESP) São Paulo SP Brazil
2. Department of Neurology Columbia University Medical Center New York New York USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12325
Reference52 articles.
1. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing;Robitaille Y;Brain,1980
2. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
3. Polyglucosan storage myopathies
4. Clinical spectrum of PRKAG2 syndrome;Porto AG;Circ Arrythm Electrophysiol,2016
5. New genetic causes for complex hereditary spastic paraplegia
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