著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Renzo Guerrini and Davide Mei and Katalin Kerti-Szigeti and Sara Pepe and Mary Kay Koenig and Gretchen Von Allmen and Megan T Cho and Kimberly McDonald and Janice Baker and Vikas Bhambhani and Zöe Powis and Lance Rodan and Rima Nabbout and Giulia Barcia and Jill A Rosenfeld and Carlos A Bacino and Cyril Mignot and Lillian H Power and Catharine J Harris and Dragan Marjanovic and Rikke S Møller and Trine B Hammer and Riikka Keski Filppula and Päivi Vieira and Clara Hildebrandt and Stephanie Sacharow and Luca Maragliano and Fabio Benfenati and Katherine Lachlan and Andreas Benneche and Florence Petit and Jean Madeleine de Sainte Agathe and Barbara Hallinan and Yue Si and Ingrid M Wentzensen and Fanggeng Zou and Vinodh Narayanan and Naomichi Matsumoto and Alessandra Boncristiano and Giancarlo la Marca and Mitsuhiro Kato and Kristin Anderson and Carmen Barba and Luisa Sturiale and Domenico Garozzo and Roberto Bei and Laura Masuelli and Valerio Conti and Gaia Novarino and Anna Fassio,Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis,Brain,0006-8950,Oxford University Press (OUP),2022-06-09,145,8,2687-2703,https://cir.nii.ac.jp/crid/1360861704780844160,https://doi.org/10.1093/brain/awac145