Associated Papers
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.
Cameron JM et al.
Annals of Clinical and Translational Neurology, 2025
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
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
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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