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「glucocerebrosidase」の検索結果

2914件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.

First Clinicogenetic Description of Parkinson's Disease Related to Mutation S107L.

Lysosomal enzyme activities as possible CSF biomarkers of synucleinopathies.

Glucosylceramidase Maintains Influenza Infection By Regulating Endocytosis.

Localization of Active Endogenous and Exogenous GBA by Correlative Light-Electron Microscopy in Human Fibroblasts.

Transcranial sonography in carriers of Gaucher disease.

Gaucher Disease: An Underdiagnosed Pathology in the Eastern Moroccan Population.

Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease.

Progressive Supranuclear Palsy-Like Phenotype in a E326K Mutation Carrier.

Exploring substituent diversity on pyrrolidine-aryltriazole iminosugars: Structural basis of β-glucocerebrosidase inhibition.

Functionalized cyclophellitols are selective glucocerebrosidase inhibitors and induce a bona fide neuropathic Gaucher model in zebrafish.

Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.

Correction to Conversion of Quinazoline Modulators from Inhibitors to Activators of β-Glucocerebrosidase.

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Velaglucerase alfa as a therapeutic option for Gaucher disease.

Bone disease in patients with Gaucher disease.

Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial.

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.

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