Associated Papers
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Polet SS et al.
Journal of Inherited Metabolic Disease, 2025
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
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Aburayyan A et al.
Human Molecular Genetics, 2023
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
Congenital disorders of glycosylation: Still "hot" in 2020.
Ondruskova N et al.
Biochimica Et Biophysica Acta. General Subjects, 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
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Larson AA et al.
Skeletal Muscle, 2018
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