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2012 | 2 |
2013 | 2 |
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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.
Neuromuscul Disord. 2013.
PMID: 23218673
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.
Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.
Dainese L, et al.
Gene. 2013 Feb 25;515(2):376-9. doi: 10.1016/j.gene.2012.12.065. Epub 2012 Dec 21.
Gene. 2013.
PMID: 23266647
Free PMC article.
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