Associated Papers
Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH et al.
Bmc Neurology, 2023
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
[Juvenile form of Sandhoff disease: first case reported in Argentina].
Mugnaini J et al.
Archivos Argentinos De Pediatria, 2017
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
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