Associated Papers
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
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
PEX10-related autosomal recessive cerebellar ataxia with hearing loss.
Kaya Özçora GD et al.
Acta Neurologica Belgica, 2020
Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.
Havali C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.
Vasiljevic E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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
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
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