Associated Papers
Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.
Al Mahdi HB et al.
Computational and Structural Biotechnology Journal, 2025
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Straniero L et al.
Neurology. Genetics, 2020
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.
Zimmermann A et al.
Journal of Inherited Metabolic Disease, 2013
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
Do CB et al.
Plos Genetics, 2011
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.
Stein P et al.
Journal of Inherited Metabolic Disease, 2011
Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.
Arnheim E et al.
Rheumatology International, 2008
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
Schmitz M et al.
The International Journal of Biochemistry & Cell Biology, 2005
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