Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
The coming-of-age of nucleocytoplasmic transport in motor neuron disease and neurodegeneration.
Ferreira PA
Cellular and Molecular Life Sciences : Cmls, 2019
Structural and functional analysis of mRNA export regulation by the nuclear pore complex.
Lin DH et al.
Nature Communications, 2018
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T et al.
Clinical Genetics, 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
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
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E et al.
American Journal of Medical Genetics. Part A, 2017
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Smith C et al.
Clinical Genetics, 2017
An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Ellard S et al.
European Journal of Human Genetics : Ejhg, 2015
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW et al.
Advances in Biological Regulation, 2014
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nousiainen HO et al.
Nature Genetics, 2008
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