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「"Sidransky E"[Author]」の検索結果

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White vitreous opacities in five patients with Gaucher disease type 3.

Clinical Evaluation of Sibling Pairs With Gaucher Disease Discordant for Parkinsonism.

Variation in cognitive function over time in Gaucher disease type 3.

Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

Glucocerebrosidase and its relevance to Parkinson disease.

Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.

GBA1-associated parkinsonism: new insights and therapeutic opportunities.

C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's disease.

Ophthalmological findings in Gaucher disease.

First Clinicogenetic Description of Parkinson's Disease Related to Mutation S107L.

Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.

Exploring genetic modifiers of Gaucher disease: The next horizon.

Recent advances in the diagnosis and management of Gaucher disease.

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Development of Zwitterionic Polypeptide Nano-formulation through Charge Attraction Assembly for Targeted Drug Delivery.

ACE phenotyping in Gaucher disease.

Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

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