Associated Papers
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B et al.
Bmc Neurology, 2022
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
Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
He M et al.
Clinical Genetics, 2014
Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects.
Gleich K et al.
Bioresearch Open Access, 2013
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM et al.
Annals of Neurology, 2009
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