Associated Papers
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
Dabaj I et al.
Journal of Clinical Medicine, 2022
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto M et al.
Journal of Human Genetics, 2021
Expanded PCH1D phenotype linked to EXOSC9 mutation.
Bizzari S et al.
European Journal of Medical Genetics, 2020
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT et al.
American Journal of Human Genetics, 2018
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