Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG46
SPG46 due to truncating mutations in GBA2: Two cases from India.
Holla VV et al.
Parkinsonism & Related Disorders, 2021
The Enigmatic Role of GBA2 in Controlling Locomotor Function.
Woeste MA et al.
Frontiers in Molecular Neuroscience, 2017
Characterization of the Zebrafish Homolog of β-Glucosidase 2: A Target of the Drug Miglustat.
Sultana S et al.
Zebrafish, 2016
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
Sultana S et al.
Biochemical and Biophysical Research Communications, 2015
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