Associated Papers
Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
Chiesa R et al.
Neuropathology and Applied Neurobiology, 2020
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome.
Kollipara L et al.
Oncotarget, 2017
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M et al.
Brain : a Journal of Neurology, 2013
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Takahata T et al.
Journal of Human Genetics, 2010
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