Associated Papers
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.
Spyridakis AC et al.
Cureus, 2022
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A et al.
Journal of Neurology, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR et al.
Orphanet Journal of Rare Diseases, 2014
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R et al.
Journal of Neurology, 2013
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