Associated Papers
EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable.
Prasun P et al.
Molecular Syndromology, 2024
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.
Guo R et al.
American Journal of Medical Genetics. Part A, 2023
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME et al.
Journal of Human Genetics, 2023
Deep mutational analysis of elongation factor eEF2 residues implicated in human disease to identify functionally important contacts with the ribosome.
Olson AN et al.
The Journal of Biological Chemistry, 2023
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Nabais Sá MJ et al.
Human Molecular Genetics, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Regulation of mRNA Translation in Neurons-A Matter of Life and Death.
Kapur M et al.
Neuron, 2017
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Hekman KE et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Hekman KE et al.
Human Molecular Genetics, 2012
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