Associated Papers
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
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
Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
He M et al.
Clinical Genetics, 2014
Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.
Gaspar P et al.
Journal of Lipid Research, 2014
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
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM et al.
Annals of Neurology, 2009
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
Balreira A et al.
Human Molecular Genetics, 2008
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