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
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR et al.
Scientific Reports, 2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung A et al.
Neurogenetics, 2022
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E et al.
Annals of Clinical and Translational Neurology, 2020
31854126 (PubMed )
Supplement: ACN3-7-105-s001.docx
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
Kumar KR et al.
Neurogenetics, 2016
Dataset for a case report of a homozygous PEX16 F332del mutation.
Bacino C et al.
Data in Brief, 2016
A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.
Bacino C et al.
Molecular Genetics and Metabolism Reports, 2015
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