Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Lewis CJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP et al.
Annals of Clinical and Translational Neurology, 2024
Genetic assessment of pathogenic germline alterations in lysosomal genes among Asian patients with pancreatic ductal adenocarcinoma.
Koh Y et al.
Journal of Translational Medicine, 2023
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Rahmani Z et al.
Metabolic Brain Disease, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A et al.
Ideggyogyaszati Szemle, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G et al.
Jimd Reports, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
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
Very late-onset Sandhoff disease presenting as Kennedy disease.
Chardon JW et al.
Muscle & Nerve, 2015
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
Grunseich C et al.
Journal of Neurology, 2015
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.
Chiricozzi E et al.
Molecular Neurobiology, 2014
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Fitterer B et al.
Molecular Genetics and Metabolism, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.
Scarpelli M et al.
Molecular Genetics and Metabolism Reports, 2014
Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.
Rattay TW et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.
Kang SY et al.
Journal of Clinical Neuromuscular Disease, 2013
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
Yamada K et al.
Journal of Biochemistry, 2013
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.
Pierson TM et al.
Molecular Genetics and Metabolism, 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
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
Levit A et al.
Molecular Genetics and Metabolism, 2010
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.
Tropak MB et al.
The Febs Journal, 2007
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Maegawa GH et al.
The Journal of Biological Chemistry, 2007
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Fujimaru M et al.
Human Genetics, 1998
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Chavany C et al.
Molecular Medicine Today, 1998
The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.
Cordeiro P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0