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Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings

Year of publication

2025

Authors

Oikarainen, Jaakko; Hinttala, Reetta; Nayebzadeh, Naemeh; Kangas, Salla M.; Mankinen, Katariina; Rahikkala, Elisa; Kokkonen, Hannaleena; Vieira, Paivi; Suo-Palosaari, Maria; Uusimaa, Johanna

Organizations and authors

University of Oulu

Rahikkala Elisa Orcid -palvelun logo

Oikarainen Jaakko

Uusimaa Johanna

Hinttala Reetta

Kangas Salla Orcid -palvelun logo

University of Turku

Rahikkala Elisa

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

Mitochondrion

Publisher

Elsevier

Volume

81

Article number

102007

ISSN

1567-7249

​Publication forum

63441

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

Biomedicine; Neurosciences

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

Netherlands

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

No

DOI

10.1016/j.mito.2025.102007

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes