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「glucocerebrosidase」の検索結果

2893件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

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.

Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines.

Species-specific differences in non-lysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.

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

Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

[Gaucher disease: A review].

A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.

Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.

The Clinical Efficacy of Imiglucerase versus Eliglustat in Patients with Gaucher's Disease Type 1: A Systematic Review.

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