Associated Papers
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Serrano-Gonzalo I et al.
International Journal of Molecular Sciences, 2025
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
39498811 (PubMed )
Supplement: ENE-32-e16499-s006.xlsx › Hoja1
Genetically stratified Parkinson's disease with freezing of gait is related to specific pattern of cognitive impairment and non-motor dominant endophenotype.
Pavelka L et al.
Frontiers in Aging Neuroscience, 2024
39463818 (PubMed )
Supplement: Table_1.DOCX
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S et al.
Npj Parkinson's Disease, 2023
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Pession A et al.
Orphanet Journal of Rare Diseases, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf
Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.
Macías-García D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
34859503 (PubMed )
Supplement: supplement_1.docx
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Lepe-Balsalobre E et al.
Clinical Chemistry and Laboratory Medicine, 2020
Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
Pomponio RJ et al.
Molecular Genetics and Metabolism, 2005
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
Sarria AJ et al.
Human Mutation, 1999
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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