Associated Papers
A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.
Yang H et al.
Gene, 2026
PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
Proske M et al.
Elife, 2024
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M et al.
Neuropediatrics, 2021
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V et al.
Molecular Genetics & Genomic Medicine, 2021
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF et al.
Journal of Medical Genetics, 2018
Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee BH et al.
American Journal of Medical Genetics. Part A, 2018
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR et al.
American Journal of Human Genetics, 2014
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