Associated Papers
Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.
Menozzi E et al.
Npj Parkinson's Disease, 2025
41034226 (PubMed )
Supplement: 41531_2025_1063_MOESM1_ESM.docx
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
39034353 (PubMed )
Supplement: 10072_2024_7690_MOESM1_ESM.docx
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Du X et al.
Medicine, 2018
Functional analysis of 11 novel GBA alleles.
Malini E et al.
European Journal of Human Genetics : Ejhg, 2014
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Siebert M et al.
Jimd Reports, 2013
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