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「"Schapira AHV "[Author]」の検索結果

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Biofluid Biomarkers in Parkinson's Disease: Clarity Amid Controversy.

Pathogenetic insights into young-onset Parkinson disease.

Genetic causes of PD: A pathway to disease modification.

The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers.

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.

mutation promotes early mitochondrial dysfunction in 3D neurosphere models.

Parkinson Disease.

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.

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