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「glucocerebrosidase」の検索結果

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Modeling Parkinson's Disease in : What Have We Learned for Dominant Traits?

β-Glucocerebrosidase modulators promote dimerization of β-glucocerebrosidase and reveal an allosteric binding site.

Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

Disease modification in Parkinson's Disease: Current approaches, challenges, and future considerations.

A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.

[Type 3 Gaucher disease, also an adult disease?]

High-risk screening for Gaucher disease in patients with neurological symptoms.

Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report.

Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function.

EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE).

Modulation of β-Glucocerebrosidase Increases α-Synuclein secretion and Exosome release in Mouse Models of Parkinson's Disease.

A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients.

Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.

Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.

A HILIC-MS/MS Method for Simultaneous Quantification of the Lysosomal Disease Markers Galactosylsphingosine and Glucosylsphingosine in Mouse Serum.

Silencing of Glucocerebrosidase Gene inEnhances the Aggregation of Parkinson's Disease Associated α-Synuclein Mutant A53T and Affects Locomotor Activity.

Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.

Role of Autophagy in Parkinson's Disease.

Phenotypic Characteristics in GBA-Associated Parkinson's Disease: A Study in a Greek Population.

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