Publication
Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy
Rauan B. Kaiyrzhanov, Ruijuan Xu, Mina Zamani, Robert D. Healey, César Augusto Pinheiro Ferreira Alves, Maha Zaki, Arpita Devi, Laura Planas-Serra, Mahtab Tavasoli, Daniel Calame, Daniel Canals, Varunvenkat M. Srinivasan, Gergely Karsai, Cynthia J. Tifft, Zahra Firoozfar, Mohammad Yahya Vahidi Mehrjardi, Mohamed S. Abdel-Hamid, Gozde Yesil, Shahryar Alavi, Huseyin Per, Hakan Gümüş, Anju Shukla, Giovanni Zifarelli, Farzad Hashemi-Gorji, Amy Pizzino, Agatha Schluter, Mónica Troncoso Schifferli, Kandamurugu Manickam, Dimah Saade, Sandra Donkervoort, Lisa Emrick, Yavuz Oktay, Omar Abdul-Rahman, Lynne Wolfe, Emily C. Boothe, Hossein Darvish, Vahid Reza Yassaee, Toktam Moosavian, Kimberly McDonald, Mauricio de Castro, Marcus Lee, Meriel Mcentagart, Katrina Stone, Sahar Mansour, Shane McKee, Klaus Schmitz-Abe, Arturo Garcia Villaseñor, Mauricio R. Delgado, Richard Chang, Warren Marks, James Bartley, Adam J. Guenzel, Jorge Carranza-del Rio, Eloísa Añorve, Mohammad Miryounesi, Emrah Yücesan, Beyza Goncu, Akif Ayaz, Ayca Dilruba Aslanger, Klaas J. Wierenga, Aaliya A. Ahmad, Ibrahim Moussaoui, Jona Mijalkovic, Shimriet Zeidler, Frank Sleutels, Erika E. Ward, Amelia Kirby, Lauren Marie Baldwin, Faezeh Jamali, Majid Alfadhel, Muhammad Umair, Jose Abdenur, Rebekah Barrick, Maija R. Steenari, Radhakrishnan Periyasamy, Katta M. Girisha, Abdelrahim Abdrabou Sadek, Danielle Demarzo, Melissa Napoli, Yazmin Enchautegui Colon, Brahim Tabarki, Laila Selim, Nihal Almenabawy, Carol J. Saunders, Randi Gadea, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Fatemeh Shirazi, Shiva Vaheb Hossinabadi, Motaharesadat Hashemi, Mohammad Mousaei Ghasroldasht, Mohammadreza Dehghani, Carsten Bonnemann, Rita Horvath, Hanns Lochmuller, Semra Hız Kurul, Mojtaba Movahedinia, Ali Rashidi-Nezhad, Reza Shervin Badv, Zahra Rezaei, Mohnish Suri, Annarita Scardamaglia, David Murphy, Peter Bauer, Stanislav Sokolenko, SYNaPS Study Group, Tahsin Stefan Barakat, Linyan Meng, Vykuntaraju K. Gowda, Thorsten Hornemann, Joseph G. Gleeson, Adeline Vanderver, Jill Anne Rosenfeld, Aurora Pujol, Sebastien Granier, Christopher McMaster, Cungui Mao, Henry Houlden, Reza Maroofian
January 2026, Elsevier
DOI: 10.2139/ssrn.6210357