{"doi":"10.1016/j.ymgme.2003.11.004","title":"Glucocerebrosidase mutations in subjects with parkinsonism","abstract":null,"journal":"Molecular Genetics and Metabolism","year":2004,"id":610385,"datarank":0.88863836961218,"base_score":5.924255797414532,"endowment":5.924255797414532,"self_citation_contribution":0.88863836961218,"citation_network_contribution":0.0,"self_endowment_contribution":0.88863836961218,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":373,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1569354,"name":"A Lwin","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Glucocerebrosidase mutations in subjects with parkinsonism","abstract":"Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease. Alterations in GBA were identified in 12 samples (21%) and were more frequent among the younger subjects. These included eight with mutations (N370S, L444P, K198T, and R329C) and four with probable polymorphisms (T369M and E326K). Our findings suggest that mutations in glucocerebrosidase may be a risk factor for the development of parkinsonism.","is_dataset_classified":null,"base_score":5.924255797414532,"endowment":5.924255797414532,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"14728994","pmcid":null,"openalex_id":"https://openalex.org/W2072066672","authors":[],"funders":[],"total_grants":0,"fwci":4.4612,"citation_percentile":0.94981883,"influential_citations":0,"citation_trend":[{"year":2012,"count":14},{"year":2013,"count":19},{"year":2014,"count":25},{"year":2015,"count":22},{"year":2016,"count":16},{"year":2017,"count":14},{"year":2018,"count":16},{"year":2019,"count":15},{"year":2020,"count":16},{"year":2021,"count":16},{"year":2022,"count":15},{"year":2023,"count":15},{"year":2024,"count":16},{"year":2025,"count":15},{"year":2026,"count":3}],"oa_status":"bronze","license":"public-domain","oa_locations":[{"url":"https://www.sciencedirect.com/science/article/pii/S1096719203002646","host_type":"journal"},{"url":"https://doi.org/10.1016/j.ymgme.2003.11.004","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/14728994","host_type":"repository"},{"url":"https://zenodo.org/record/1259477","host_type":"repository"}],"fields_of_study":["Lysosomal Storage Disorders Research","Cellular transport and secretion","Parkinson's Disease Mechanisms and Treatments"],"mesh_terms":["Adult","Age Factors","Aged","Brain","Gaucher Disease","Glucosylceramidase","Humans","Middle Aged","Mutation","Risk Factors","Parkinsonian Disorders"],"keywords":["Glucocerebrosidase","Parkinsonism","Disease","Mutation","Gene","Gaucher's disease","Genetics","Medicine","Biology","Internal medicine"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-31T21:45:25.500920Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}