Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Authors:
Cavestro C; Panteghini C; Reale C; Nasca A; Fenu S and 6 more

Journal:
Neurogenetics

Publication Year: 2021

DOI:
10.1007/s10048-021-00667-0

PMCID:
PMC8426226

PMID:
34387792

Journal Information

Full Title: Neurogenetics

Abbreviation: Neurogenetics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"Declarations Conflict of interestThe authors declare no competing interests. Conflict of interest The authors declare no competing interests."

Evidence found in paper:

"Funding This study was funded by Telethon-Italia (grant n. GGP16234 to V.T.) and by Italian Ministry of Health (grant n. GR-2018–12365610 to I.D.M.). This study was carried out in the Center for the Study of Mitochondrial Paediatric Diseases (http://www.mitopedia.org) sustained by the Mariani Foundation, Milan, Italy."

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Last Updated: Aug 05, 2025