المؤلفون: 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, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

المساهمون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, Mcdonald, Kimberly, Baker, Janice, Bhambhani, Vika, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andrea, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/11566/303452

الاتاحة: https://hdl.handle.net/11566/303452
https://doi.org/10.1093/brain/awac145