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BMC Neurology|August 13, 2021
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG studyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.Journal of Inherited Metabolic Disease|June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathwayKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.Journal of Inherited Metabolic Disease|February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.Pageof 12