Associated Papers
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
Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms.
Kumar KR et al.
Molecular Genetics and Metabolism Reports, 2018
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