Associated Papers
Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families.
Yalcouyé A et al.
Brain and Behavior, 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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
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
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
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N et al.
American Journal of Human Genetics, 2003
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