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
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Bernal-Bonilla IT et al.
The Application of Clinical Genetics, 2025
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
PEX10-related autosomal recessive cerebellar ataxia with hearing loss.
Kaya Özçora GD et al.
Acta Neurologica Belgica, 2020
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.
Zhang C et al.
Clinical Neurology and Neurosurgery, 2019
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
Renaud M et al.
Journal of Neurology, 2016
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Régal L et al.
Annals of Neurology, 2010
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS et al.
Human Mutation, 2000
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