Associated Papers
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.
Montenegro YHA et al.
Diseases (basel, Switzerland), 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM et al.
Ophthalmic Genetics, 2024
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.
Santos JI et al.
Life (basel, Switzerland), 2022
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
33623043 (PubMed )
Supplement: 41525_2021_182_MOESM1_ESM.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Martins C et al.
Human Mutation, 2019
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.
Canals I et al.
Stem Cell Reports, 2015
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
Matos L et al.
Orphanet Journal of Rare Diseases, 2014
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
Canals I et al.
Clinical Genetics, 2011
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.
Ali Pervaiz M et al.
Journal of Neurology, 2011
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M et al.
Human Mutation, 2009
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
Coutinho MF et al.
Clinical Genetics, 2008
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