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「glucocerebrosidase」の検索結果

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Genes and Nonmotor Symptoms in Parkinson's Disease.

N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.

Investigation of novel pharmacological chaperones for Gaucher Disease.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Permeability Barrier and Microstructure of Skin Lipid Membrane Models of Impaired Glucosylceramide Processing.

New Therapeutic Strategies for Lewy Body Dementias.

In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase.

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers.

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.

Tuning of β-glucosidase and α-galactosidase inhibition by generation and in situ screening of a library of pyrrolidine-triazole hybrid molecules.

The Role of Lipids Interacting with α-Synuclein in the Pathogenesis of Parkinson's Disease.

A case of improved hearing with cochlear implantation in Gaucher disease type 1.

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.

DISCOVERY, VALIDATION AND OPTIMIZATION OF CEREBROSPINAL FLUID BIOMARKERS FOR USE IN PARKINSON'S DISEASE.

Glucocerebrosidase Mutations in Parkinson Disease.

A novel function for glucocerebrosidase as a regulator of sterylglucoside metabolism.

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease.

Signalome-wide RNAi screen identifies GBA1 as a positive mediator of autophagic cell death.

Altered expression of epidermal lipid bio-synthesis enzymes in atopic dermatitis skin is accompanied by changes in stratum corneum lipid composition.

Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.

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