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「glucocerebrosidase」の検索結果

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A Fluorescence Polarization Activity-Based Protein Profiling Assay in the Discovery of Potent, Selective Inhibitors for Human Non-lysosomal Glucosylceramidase.

Death by over-eating: The Gaucher Disease associated gene GBA1, identified in a screen for mediators of autophagic cell death, is necessary for developmental cell death in Drosophila midgut.

Mitochondrial Dysfunction in Lysosomal Storage Disorders.

The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Generation of a homozygous GBA deletion human embryonic stem cell line.

Insights into the structural biology of Gaucher disease.

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.

Serum lipid alterations in GBA-associated Parkinson's disease.

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

Recent advances and novel treatments for sphingolipidoses.

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.

Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.

Glucocerebrosidase expression patterns in the non-human primate brain.

GBA mutations in Parkinson disease: earlier death but similar neuropathological features.

The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.

Dual-Task Performance in GBA Parkinson's Disease.

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