Associated Papers
Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
Roy S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2026
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.
Menkovic I et al.
Molecular Genetics and Metabolism Reports, 2025
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Nestrasil I et al.
Molecular Genetics and Metabolism, 2018
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Caciotti A et al.
Human Genetics, 2003
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