1. Mutations in ATP6AP2 cause autophagic liver disease in humans. Issue 6 (3rd June 2018) Authors: Cannata Serio, Magda; Rujano, Maria A.; Simons, Matias Journal: Autophagy Issue: Volume 14:Issue 6(2018) Page Start: 1088 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors. (June 2017) Authors: Cavallin, M.; Rujano, Maria A.; Bednarek, N.; Medina-Cano, D.; Bernabe Gelot, A.; Drunat, S.; Maillard, C.; Nitschké, P.; Beneteau, C.; Poirier, K.; Rio, M.; Boddaert, N.; Passemard, S.; Baffet, A.; Thomas, S.; Bahi-Buisson, N. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗