Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.
Lehmann RJ et al.
Molecular Genetics and Metabolism Reports, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Douek AM et al.
International Journal of Molecular Sciences, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Diagnosis of Mucopolysaccharidoses.
Kubaski F et al.
Diagnostics (basel, Switzerland), 2020
Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.
Shafaat M et al.
Metabolic Brain Disease, 2019
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
Li X et al.
Medicine, 2018
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
Shapiro EG et al.
The Journal of Pediatrics, 2016
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Ugrinov KG et al.
Plos One, 2015
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Valstar MJ et al.
Annals of Neurology, 2010
Expression and functional characterization of human mutant sulfamidase in insect cells.
Montfort M et al.
Molecular Genetics and Metabolism, 2004
Analysis of Sanfilippo A gene mutations in a large pedigree.
Di Natale P et al.
Clinical Genetics, 2003
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Chabás A et al.
American Journal of Medical Genetics, 2001