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
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
Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects.
Gleich K et al.
Bioresearch Open Access, 2013
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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