Associated Papers
Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.
Gomez VA et al.
Disease Models & Mechanisms, 2025
Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila.
Gomez VA et al.
Biorxiv : the Preprint Server for Biology, 2024
Eye movement abnormalities in a patient with Zellweger spectrum disorder.
Rosini F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
Mignarri A et al.
Jimd Reports, 2012
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
Sevin C et al.
Orphanet Journal of Rare Diseases, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
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