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「glucocerebrosidase」の検索結果

3083件中 141件~160件表示    検索結果をPubMedで見る PubMedで見る

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.

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease.

GBA haploinsufficiency accelerates alpha synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease=.

Selective Targeting of the Interconversion between Glucosylceramide and Ceramide by Scaffold Tailoring of Iminosugar Inhibitors.

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