Associated Papers
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
40139194 (PubMed )
Supplement: mmc3.pdf
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP et al.
Annals of Clinical and Translational Neurology, 2024
38009419 (PubMed )
Supplement: ACN3-11-207-s001.docx
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH et al.
Bmc Neurology, 2023
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A et al.
Molecular Genetics and Metabolism, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Zhang W et al.
Metabolic Brain Disease, 2016
[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
Huang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P et al.
Gene, 2013
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L et al.
Gene, 2012
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.
Delnooz CC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Maegawa GH et al.
The Journal of Biological Chemistry, 2007
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
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