Associated Papers
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Polet SS et al.
Journal of Inherited Metabolic Disease, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.
Robertson E et al.
Nar Genomics and Bioinformatics, 2025
Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.
Del Gamba C et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
The natural history of progressive myoclonus ataxia.
van der Veen S et al.
Neurobiology of Disease, 2024
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report.
Arroyo MS et al.
Neurology. Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Francisco R et al.
Orphanet Journal of Rare Diseases, 2023
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
Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z et al.
Cells, 2021
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
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
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.
Lambrechts RA et al.
Neuroscience, 2019
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A et al.
Seizure, 2019
Genome wide association and gene enrichment analysis reveal membrane anchoring and structural proteins associated with meat quality in beef.
Leal-Gutiérrez JD et al.
Bmc Genomics, 2019
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Larson AA et al.
Skeletal Muscle, 2018
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
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.
van Egmond ME et al.
Orphanet Journal of Rare Diseases, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
GOSR2: a progressive myoclonus epilepsy gene.
Dibbens LM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
Praschberger R et al.
Movement Disorders Clinical Practice, 2015
Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea.
van Egmond ME et al.
Movement Disorders Clinical Practice, 2015
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
van Egmond ME et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS et al.
Journal of Medical Genetics, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Boissé Lomax L et al.
Brain : a Journal of Neurology, 2013
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA et al.
American Journal of Human Genetics, 2011
Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa.
Anderson DG et al.
Movement Disorders Clinical Practice, 0