Associated Papers
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.
De-Paula RB et al.
Brain : a Journal of Neurology, 2026
A proteogenomic view of Parkinson's disease causality and heterogeneity.
Kaiser S et al.
Npj Parkinson's Disease, 2023
The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.
Wenger DA et al.
Jimd Reports, 2020
ARSA gene variants and Parkinson's disease.
Fan Y et al.
Brain : a Journal of Neurology, 2020
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.
Paciotti S et al.
Journal of Clinical Medicine, 2020
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.
Duarte AJ et al.
International Journal of Molecular Sciences, 2018
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
Lysosomal Storage Disorders in Egyptian Children.
Elmonem MA et al.
Indian Journal of Pediatrics, 2016
Disease models for the development of therapies for lysosomal storage diseases.
Xu M et al.
Annals of the New York Academy of Sciences, 2016
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Antelmi E et al.
Journal of Neurology, 2014
Developing therapeutic approaches for metachromatic leukodystrophy.
Patil SA et al.
Drug Design, Development and Therapy, 2013
Pharmacological chaperone therapy for Gaucher disease: a patent review.
Benito JM et al.
Expert Opinion on Therapeutic Patents, 2011
Lysosomal storage disorders: molecular basis and laboratory testing.
Filocamo M et al.
Human Genomics, 2011
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Sawkar AR et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Park JK et al.
Pediatric Research, 2003
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Goyal M et al.
Annals of Indian Academy of Neurology, 0