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- 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.Am J Med Genet A. 2013; 161A: 2604-2608
- De novo mutations in PURA are associated with hypotonia and developmental delay.Cold Spring Harb Mol Case Stud. 2015; 1a000356
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.J Med Genet. 2018; 55: 104-113
- Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.Am J Hum Genet. 2014; 95: 579-583
- PURA-related developmental and epileptic encephalopathy: phenotypic and genotypic spectrum.Neurol Genet. 2021; 7: e613
- Three individuals with PURA syndrome in a cohort of patients with neuromuscular disease.Neuropediatrics. 2021; 52: 390-393
- Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.Mol Cell Biol. 2003; 23: 6857-6875
- Congenital myasthenic syndromes.Orphanet J Rare Dis. 2019; 14: 57
- The molecular function of PURA and its implications in neurological diseases.Front Genet. 2021; 12: 1-18