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「glucocerebrosidase」の検索結果

2967件中 121件~140件表示    検索結果をPubMedで見る PubMedで見る

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.

Mitochondrial Dysfunction and Mitophagy Defect Triggered by Heterozygous GBA Mutations.

The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.

Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.

Enzyme Replacement Therapy in a Gaucher Family.

Cognition among individuals along a spectrum of increased risk for Parkinson's disease.

Delivery of Gba Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher disease.

Prevalence of pre-diagnostic symptoms did not differ between LRRK2-related, GBA-related and idiopathic patients with Parkinson's disease.

Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

Epidermal Lamellar Granules.

Orthoester functionalized -guanidino derivatives of 1,5-dideoxy-1,5-imino-d-xylitol as pH-responsive inhibitors of β-glucocerebrosidase.

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Cutaneous permeability barrier function in signal transducer and activator of transcription 6-deficient mice is superior to that in wild-type mice.

Exploring genetic modifiers of Gaucher disease: The next horizon.

Role of GSK3β/α-synuclein axis in methamphetamine-induced neurotoxicity in PC12 cells.

Recent advances in the diagnosis and management of Gaucher disease.

Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Genetic and clinical characteristics of Filipino patients with Gaucher disease.

Fetal gene therapy for neurodegenerative disease of infants.

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