Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway (2024) Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, et al. Journal article One hundred years of EEG for brain and behaviour research (2024) Mushtaq F, Welke D, Gallagher A, Pavlov YG, Kouara L, Bosch-Bayard J, van den Bosch JJ, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article Patient perspectives on the use of digital medical devices and health data for AI-driven personalised medicine in Parkinson’s Disease (2024) Paccoud I, Valero MM, Marín LC, Bontridder N, Ibrahim A, Winkler J, Fomo M, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article Somatic variant analysis of resected brain tissue in epilepsy surgery patients (2024) Sanders MW, Koeleman BP, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, et al. Journal article Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling (2024) Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, et al. Journal article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article