Associated Papers
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Polet SS et al.
Journal of Inherited Metabolic Disease, 2025
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Hentrich L et al.
Genes, 2023
37895210 (PubMed )
Supplement: genes-14-01860-s001.zip › GOSR2_Table_S1.xlsx › Sheet1
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
Stemmerik MG et al.
Human Mutation, 2021
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
Henige H et al.
European Journal of Medical Genetics, 2021
Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.
Takai A et al.
International Journal of Molecular Sciences, 2020
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.
Polet SS et al.
Parkinsonism & Related Disorders, 2020
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
Völker JM et al.
Disease Models & Mechanisms, 2017
Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.
Praschberger R et al.
Cell Reports, 2017
GOSR2: a progressive myoclonus epilepsy gene.
Dibbens LM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
Praschberger R et al.
Movement Disorders Clinical Practice, 2015
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