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「glucocerebrosidase」の検索結果

2998件中 121件~140件表示    検索結果をPubMedで見る PubMedで見る

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels.

Pharmacological treatment of pediatric Gaucher disease.

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

New Frontiers in Parkinson's Disease: From Genetics to the Clinic.

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

The Neuropsychiatric and Motor Profile of -Associated Parkinson's Disease: A Review.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report.

Design of a New α-1--Alkyl-DAB Derivative Acting as a Pharmacological Chaperone for β-Glucocerebrosidase Using Ligand Docking and Molecular Dynamics Simulation.

Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.

Neurological effects of GBA mutations.

Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age.

Biochemical Characterization of the c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Strawberry seed extract and its major component, tiliroside, promote ceramide synthesis in the stratum corneum of human epidermal equivalents.

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Distinguishing the differences in beta-glycosylceramidase folds, dynamics, and actions informs therapeutic uses.

Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.

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