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「"Schapira AHV"[Author]」の検索結果

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Functional assessment of glucocerebrosidase modulator efficacy in primary patient-derived macrophages is essential for drug development and patient stratification.

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.

Evolution of prodromal parkinsonian features in a cohort of mutation-positive individuals: a 6-year longitudinal study.

Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.

Progress in neurology 2017-2018.

Neurological effects of GBA mutations.

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.

Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.

The role of glucocerebrosidase in Parkinson disease pathogenesis.

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

Advances and Insights into Neurological Practice 2016-17.

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Insights into the structural biology of Gaucher disease.

Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy.

Nonmotor Symptoms in Experimental Models of Parkinson's Disease.

Non-motor features of Parkinson disease.

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