Associated Papers
Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.
Aslan ES et al.
Life (basel, Switzerland), 2025
Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.
Faheem A et al.
Molecular Biology Reports, 2024
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
Chiesa R et al.
Neuropathology and Applied Neurobiology, 2020
Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.
Kashimada A et al.
Journal of the Neurological Sciences, 2018
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.
Hasegawa S et al.
Journal of the Neurological Sciences, 2014
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
Goto M et al.
Orphanet Journal of Rare Diseases, 2014
SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
Inaguma Y et al.
Embo Molecular Medicine, 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
A case of Marinesco-Sjögren syndrome: MRI observations of skeletal muscles, bone metabolism, and treatment with testosterone and risedronate.
Fujitake J et al.
Internal Medicine (tokyo, Japan), 2011
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Takahata T et al.
Journal of Human Genetics, 2010
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
Anttonen AK et al.
European Journal of Human Genetics : Ejhg, 2008
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
Eriguchi M et al.
Journal of the Neurological Sciences, 2008