Associated Papers
Expanding the Phenotype Spectrum of β-Mannosidosis.
Martin Rios AM et al.
Neurology. Genetics, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Hammoud M et al.
Genes, 2024
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1
Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA.
Katz ML et al.
Gene, 2024
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.
Gytz H et al.
The Febs Journal, 2019
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.
Yu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.
Huynh T et al.
Bmc Genomics, 2011
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Sabourdy F et al.
Bmc Medical Genetics, 2009
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
Labauge P et al.
Clinical Neurology and Neurosurgery, 2009
Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV et al.
Ukrainian Biochemical Journal, 0
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