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「glucocerebrosidase」の検索結果

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Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.

Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.

[Gaucher's disease - an overview about a sphingolipidosis].

Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Pharmacological treatment of pediatric Gaucher disease.

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

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.

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