Biallelic variants in the ESCRT-II subunit SNF8 cause either early-onset lethal leukoencephalopathy or childhood onset optic atrophy

Brugger, Melanie; Zhen, Yan; Caporali, Leonardo; Brech, Andreas; Sorensen, Vigdis; Kopajtich, Robert; Zott, Benedikt; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Radio, Francesca Clementina; Lauri, Antonella; Carrozzo, Rosalba; Fiorini, Claudio; La Morgia, Chiara; Ziccardi, Lucia; Cordeddu, Viviana; Zampino, Giuseppe; Arelin, Maria; Blechschmidt, Christiane; Prokisch, Holger; Michaelson-Cohen, Rachel; Daum, Hagit; Abou Jamra, Rami; Arzberger, Thomas; Winkelmann, Juliane; Sekulic, Nikolina; Carelli, Valerio; Tartaglia, Marco; Stenmark, Harald; Wagner, Matias     «

Brugger, Melanie; Zhen, Yan; Caporali, Leonardo; Brech, Andreas; Sorensen, Vigdis; Kopajtich, Robert; Zott, Benedikt; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Radio, Francesca Clementina; Lauri, Antonella; Carrozzo, Rosalba; Fiorini, Claudio; La Morgia, Chiara; Ziccardi, Lucia; Cordeddu, Viviana; Zampino, Giuseppe; Arelin, Maria; Blechschmidt, Christiane; Prokisch, Holger; Michaelson-Cohen, Rachel; Daum, Hagit; Abou Jamra, Rami; Arzberger, Thomas; Winkelmann, Juliane; Sekulic, Nikolina; Car...     »