Associated Papers
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B et al.
Bmc Neurology, 2022
Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.
Quraishi IH et al.
Neurology. Genetics, 2021
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.
He J et al.
Chinese Medical Journal, 2018
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
Tian WT et al.
Seizure, 2018
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.
Dibbens L et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
Blanz J et al.
Human Molecular Genetics, 2010
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF et al.
American Journal of Human Genetics, 2008
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