Associated Papers
Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
Huang X et al.
Plos One, 2025
How to Detect Isolated PEX10-Related Cerebellar Ataxia?
Nava E et al.
Neuropediatrics, 2022
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
Yamashita T et al.
Journal of the Neurological Sciences, 2017
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
Renaud M et al.
Journal of Neurology, 2016
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Wang XM et al.
Stem Cell Research & Therapy, 2015
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Steinberg SJ et al.
Journal of Inherited Metabolic Disease, 2009
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