CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
CIAO1 和 MMS19 缺陷：由胞质铁硫簇蛋白组装障碍引起的致命性神经退行性表型
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101104
van Karnebeek, Clara D M; Tarailo-Graovac, Maja; Leen, René; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V; Pena, Izabella A; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L; Drögemöller, Britt I; Grootemaat, Anita E; van der Wel, Nicole N; Dobritzsch, Doreen; Roseboom, Winfried; Schomakers, Bauke V; Jaspers, Yorrick R J; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R; van der Lee, Robin; Ross, Colin J; Kochan, Jakub; McIntyre, Rebecca L; van Klinken, Jan B; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michèl A; Riva, Daria; Garavaglia, Barbara; Moeschler, John B; Filiano, James J; Ekker, Marc; Berman, Jason N; Dyment, David; Vaz, Frédéric M; Wasserman, Wyeth W; Houtkooper, Riekelt H; van Kuilenburg, André B P
