Associated Papers
Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants.
Eser M et al.
Brain & Development, 2025
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings.
Tanriverdi U et al.
Parkinsonism & Related Disorders, 2022
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
Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
He M et al.
Clinical Genetics, 2014
No association between NOD2 variants and Parkinson's disease.
Appenzeller S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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