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「glucocerebrosidase」の検索結果

3029件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers.

Metabolomics in genetic testing.

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.

Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.

Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease.

Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study.

Glucocerebrosidase Activity Modulates Neuronal Susceptibility to Pathological α-Synuclein Insult.

White vitreous opacities in five patients with Gaucher disease type 3.

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations.

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.

The GCD3 protein is a glucosylceramidase that preferentially hydrolyzes long-acyl-chain glucosylceramides.

A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.

LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients.

Circulating Brain-enriched MicroRNAs for detection and discrimination of idiopathic and genetic Parkinson's disease.

Rare genotype associated with severe bone disease in Gaucher disease type 1.

Clinical Evaluation of Sibling Pairs With Gaucher Disease Discordant for Parkinsonism.

Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.

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