Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Year of publication

2022

Authors

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan

Organizations and authors

University of Oulu

Vieira Päivi Maria

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/Series

Brain

Publisher

Oxford University Press

Issue

Pages

2687-2703

ISSN

0006-8950

Publication forum

52614

Publication forum level

Open access

Open access in the publisher’s service

Open access of publication channel

Partially open publication channel

Self-archived

Yes

License of the self-archived publication

Muu lisenssi

Other information

Fields of science

Biomedicine; Neurology and psychiatry

Keywords

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

Publication country

United Kingdom

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

DOI

10.1093/brain/awac145

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

Yes