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References from Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report. Local targets link to admitted publications; unresolved targets remain external evidence.
Parkinson's disease
10.1016/s0140-6736(21)00218-x · 2021 · External reference
Underlying mechanisms of GBA1 in parkinson's disease and dementia with lewy bodies: narrative review
10.3390/genes16121496 · 2025 · External reference
The risk of parkinson's disease in type 1 Gaucher disease
10.1007/s10545-010-9055-0 · 2010 · External reference
10.3760/cma.j.cn113694-20200331-00233
10.3760/cma.j.cn113694-20200331-00233 · 2020 · External reference
The motor and cognitive features of parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series
10.1007/s00415-018-8908-6 · 2018 · External reference
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher registry
10.1002/ajh.24063 · 2015 · External reference
LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the Glucocerebrosidase Gene (GBA)
10.1002/humu.20676 · 2008 · External reference
Parkinson's disease: clinical features and diagnosis
10.1136/jnnp.2007.131045 · 2008 · External reference
Classification of GBA1 variants and their impact on parkinson's disease: an in silico score analysis
10.1038/s41531-025-01060-6 · 2025 · External reference
Type I Gaucher disease with bullous pemphigoid and Parkinson disease: a case report
10.1097/md.0000000000010188 · 2018 · External reference
Executive summary of the KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease: known knowns and known unknowns
10.1016/j.kint.10 · 2023 · External reference
Gaucher-associated parkinsonism
10.1007/s10571-015-0176-8 · 2015 · External reference
Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report
10.1186/s12882-023-03163-9 · 2023 · External reference
A 12-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease
10.1007/8904_2011_48 · 2012 · External reference
Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
10.1038/s41531-022-00397-6 · 2022 · External reference
LaMarca ME, Stubblefield BK, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup
10.1203/01.pdr.0000049515.79882.94 · 2003 · External reference
The glucocerebrosidase D409H mutation in Gaucher disease
10.1006/bmme.1996.0077 · 1996 · External reference
Expert consensus on diagnosis and treatment of adult Gaucher disease in China
10.3760/cma.j.cn112137-20200222-00405 · 2020 · External reference
Prevalence of autoantibodies in the course of Gaucher disease type 1: a multicenter study comparing Gaucher disease patients to healthy subjects
10.1016/j.jbspin.12 · 2016 · External reference
Old disease-New reflections: Gaucher, immunity, and inflammation
10.1111/jcmm.70087 · 2024 · External reference
A review of Gaucher disease pathophysiology, clinical presentation and treatments
10.3390/ijms18020441 · 2017 · External reference
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization
10.1006/mgme.2001.3201 · 2001 · External reference
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
10.1016/s1096-7192(03)00071-4 · 2003 · External reference
Comprehensive short and long read sequencing analysis for the Gaucher and parkinson's disease-associated GBA gene
10.1038/s42003-022-03610-7 · 2022 · External reference
Challenges in the diagnosis of parkinson's disease
10.1016/s1474-4422(21)00030-2 · 2021 · External reference
Glucocerebrosidase mutations and parkinson disease
10.1007/s00702-022-02531-3 · 2022 · External reference
Consensus guidance for genetic counseling in GBA1 variants: a focus on parkinson's disease
10.1002/mds.30006 · 2024 · External reference