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「"Sidransky E"[Author]」の検索結果

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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.

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

The role of epigenetics in lysosomal storage disorders: Uncharted territory.

Induced pluripotent stem cell models of lysosomal storage disorders.

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.

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