Associated Papers
Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM et al.
Clinical Genetics, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M et al.
Molecular Genetics & Genomic Medicine, 2020
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
Tan QK et al.
Cold Spring Harbor Molecular Case Studies, 2017
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Kaneb HM et al.
Human Molecular Genetics, 2015
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