Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.
Capitini C et al.
Biomedicines, 2022
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Pharmacological Chaperones for β-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances.
Stütz AE et al.
Chemical Record (new York, N.y.), 2021
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S et al.
Jimd Reports, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Kingma SDK et al.
Jimd Reports, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Fischetto R et al.
Molecular Genetics & Genomic Medicine, 2020
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM et al.
Molecular Genetics and Metabolism, 2020
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
Abumansour IS et al.
Jimd Reports, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R et al.
Scientific Reports, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
Giugliani L et al.
Jimd Reports, 2019
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Feng Y et al.
Metabolic Brain Disease, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.
Bleier M et al.
Molecular Genetics and Metabolism Reports, 2018
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.
Bouhouche A et al.
Case Reports in Genetics, 2018
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Deodato F et al.
Metabolic Brain Disease, 2017
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S et al.
European Journal of Medicinal Chemistry, 2017
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
Regier DS et al.
American Journal of Medical Genetics. Part A, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.
Kannebley JS et al.
Jimd Reports, 2015
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Sperb F et al.
Gene, 2013
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
Moore T et al.
Jimd Reports, 2013
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Pierson TM et al.
Neurology, 2012
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
Fantur KM et al.
Journal of Inherited Metabolic Disease, 2012
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.
Coutinho MF et al.
Clinical Genetics, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.
Sincan M et al.
Human Mutation, 2012
Analysis of DNA sequence variants detected by high-throughput sequencing.
Adams DR et al.
Human Mutation, 2012
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D et al.
Clinical Genetics, 2010
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Fantur K et al.
Molecular Genetics and Metabolism, 2010
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D et al.
Human Mutation, 2009
Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities.
Suzuki Y et al.
Perspectives in Medicinal Chemistry, 2009
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
Caciotti A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.
Gucev ZS et al.
American Journal of Medical Genetics. Part A, 2008
Chemical chaperone therapy for GM1-gangliosidosis.
Suzuki Y
Cellular and Molecular Life Sciences : Cmls, 2008