Associated Papers
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.
Giannini G et al.
Journal of Parkinson's Disease, 2024
38306061 (PubMed )
Supplement: jpd-14-jpd230334-s001.pdf
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
35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Materials_Straniero_et_al_Rev.docx
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance.
den Heijer JM et al.
Scientific Reports, 2021
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
den Heijer JM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.
Creese B et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Crosiers D et al.
Neuroscience Letters, 2016
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Miocić S et al.
Human Mutation, 2005
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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