Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
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
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
Ezgu F et al.
Clinical Genetics, 2014
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M et al.
Brain : a Journal of Neurology, 2013
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Horvers M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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
Select a paper to view details