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Cell Reports. Medicine|July 17, 2024
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalusFrancesca Bertino, Dibyanti Mukherjee, Massimo Bonora, et al.American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.The EMBO Journal|October 31, 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyDenisa Hathazi, Helen Griffin, Matthew J Jennings, et al.HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Pageof 21