Associated Papers
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.
Alzayed NT et al.
Neurology. Genetics, 2024
Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.
Li X et al.
The Febs Journal, 2023
Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.
Wang G et al.
Frontiers in Molecular Neuroscience, 2023
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL et al.
Human Molecular Genetics, 2022
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.
Marquez J et al.
The Journal of Clinical Investigation, 2020
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Geetha TS et al.
Molecular Genetics & Genomic Medicine, 2018
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