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10 merged results for "Glucocerebrosidase Mutations"

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  1. The Effect of LRRK2 and GBA1 Mutations on Survival in Early- and Late-Onset Parkinson's Disease.

    Rubin R, Alcalay RN, Omer N, Goldstein O · 2026 · Movement disorders : official journal of the Movement Disorder Society

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1002/mds.70494

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  2. Clinical and genetic findings in Parkinson's disease in a Turkish cohort: a retrospective exome sequencing study.

    Canbek S, Gulseven MF, Mert G, Senol MG · 2026 · Neurogenetics

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1007/s10048-026-00943-x

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  3. Glucocerebrosidase dysfunction in GBA1 carriers: insights from blood and macrophage analyses.

    Nikolaev M, Kopytova A, Izyumchenko A, Senkevich K · 2026 · Molecular biology reports

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1007/s11033-026-12610-3

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  4. Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

    Ou YM, He MF, Yan FJ, Teng TX · 2026 · Brain & development

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.braindev.2026.104584

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  5. Cholesterol enhances lysosome-autophagosome fusion for better α-synuclein clearance in GBA L444P-mutated Parkinson disease.

    Chen M, Liu F, Yang Y, Chen R · 2026 · Cell reports

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.celrep.2026.117800

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  6. Peripheral neuropathy in a mouse model lacking GBA1 in Schwann cells.

    Russo L, Gregorio I, Negro S, Bizzotto D · 2026 · Neurobiology of disease

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.nbd.2026.107562

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  7. Altered synaptic and astrocytic proteins in Lewy body disorders associated with GBA mutations.

    Eid TM, Lashley T, Warner TT, Khan A · 2026 · Brain communications

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1093/braincomms/fcag246

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  8. E326K GBA polymorphism is associated with clinical and pathological features of synucleinopathy in the absence of overt Parkinson's disease or Lewy body dementia.

    Arnold MR, Westaway SK, Woltjer RL, Gray NE · 2026 · Journal of Parkinson's disease

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1177/1877718x261468542

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  9. [Ethical and clinical aspects of genetic analysis in neurodegenerative diseases].

    Yusupov FA, Abdykadyrov MS · 2026 · Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.17116/jnevro202612607115

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  10. Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits.

    Bougea A · 2026 · Genes

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3390/genes17080965

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer