Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy

Monica Gagliardi,Radha Procopio,Giuseppe Nicoletti,Maurizio Morelli,Laura Brighina,Andrea Quattrone,Giuseppe Bonapace,Donatella Malanga,Aldo Quattrone,Grazia Annesi

Journal of the Neurological Sciences（2021）

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摘要

•We screened 250 PD and 100 MSA for the ATP13A2 gene.•We identified a missense (c.3059A>G) in heterozygous in a MSA patient.•The relationship between ATP13A2 and MSA is still unknown, further studies are needed to clarify the functional role of this genetic risk factor.

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关键词

ATP13A2,Parkinson's disease,Multiple system atrophy,Autosomal recessive form

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