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Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.Annals of Neurology|October 5, 2012
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging FindingsFanny Mochel, Raphael Schiffmann, Marjan E Steenweg, et al.Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.BMJ Open|October 11, 2020
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiativeDerralynn A Hughes, Patricio Aguiar, Patrick B Deegan, et al.Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, et al.Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.Pageof 27