Associated Papers
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Hathazi D et al.
Brain : a Journal of Neurology, 2021
Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
Chiesa R et al.
Neuropathology and Applied Neurobiology, 2020
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
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Senderek J et al.
Nature Genetics, 2005
Select a paper to view details