Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Polet SS et al.
Journal of Inherited Metabolic Disease, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report.
Arroyo MS et al.
Neurology. Genetics, 2024
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Hentrich L et al.
Genes, 2023
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
Stemmerik MG et al.
Human Mutation, 2021
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
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