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Molecular Genetics and Metabolism|August 12, 2015
Key features and clinical variability of COG6-CDGDaisy Rymen, Julia Winter, Peter M Van Hasselt, et al.Epilepsy Research|November 5, 2016
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, et al.Annals of Clinical and Translational Neurology|May 22, 2023
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophyMurtadha Al-Saady, Shanice Beerepoot, Bonnie C Plug, et al.Metabolites|January 16, 2019
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and PlasmaHanneke A Haijes, Marcel Willemsen, Maria Van der Ham, et al.JIMD Reports|January 31, 2018
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12Monique G M de Sain-van der Velden, Willemijn F E Kuper, Marie-Anne Kuijper, et al.Plos Biology|June 24, 2025
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editorsIndi P Joore, Sawsan Shehata, Irena Muffels, et al.Genetics in Medicine Open|December 13, 2024
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reportsElise A Ferreira, Floris C Hofstede, Hanneke A Haijes-Siepel, et al.Acta Neuropathologica Communications|January 1, 2020
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosisGemma Gomez-Giro, Jonathan Arias-Fuenzalida, Javier Jarazo, et al.Nature Communications|October 24, 2020
Prime editing for functional repair in patient-derived disease modelsImre F Schene, Indi P Joore, Rurika Oka, et al.Iscience|June 10, 2025
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamicsIrena J J Muffels, Theodore Carter, Holger Rehmann, et al.Pageof 13