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「glucocerebrosidase」の検索結果

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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].

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

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.

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene.

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.

Rebamipide Mitigates Impairments in Mitochondrial Function and Bioenergetics with α-Synuclein Pathology in 6-OHDA-Induced Hemiparkinson's Model in Rats.

Lactate Dehydrogenase and β-Glucuronidase as Salivary Biochemical Markers of Periodontitis Among Smokers and Non-Smokers.

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