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LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Archive ouverte | Lesage, Suzanne | CCSD

International audience. BACKGROUND: Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases. OBJE...

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Archive ouverte | Lesage, Suzanne | CCSD

7 pages. International audience. Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutatio...

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Archive ouverte | Lesage, Suzanne | CCSD

International audience. Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease...

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