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「glucocerebrosidase」の検索結果

3028件中 21件~40件表示    検索結果をPubMedで見る PubMedで見る

GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles.

mutation promotes early mitochondrial dysfunction in 3D neurosphere models.

Novel topical skin hydration agent containing Anadenanthera colubrina polysaccharide-standardized herbal preparation.

Autophagic- and Lysosomal-Related Biomarkers for Parkinson's Disease: Lights and Shadows.

Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

Reduction of large soft-tissue Gaucheromas with substrate reduction therapy.

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.

Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.

Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene.

Effects of glucocerebrosidase gene polymorphisms and mutations on the risk of Parkinson's disease dementia: a meta-analysis.

Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

A Localized Chimeric Hydrogel Therapy Combats Tumor Progression through Alteration of Sphingolipid Metabolism.

Genetic, structural and functional evidence link TMEM175 to synucleinopathies.

Neurorestorative effects of sub-chronic administration of ambroxol in rodent model of Parkinson's disease.

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.

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