Associated Papers
Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.
Ma X et al.
Frontiers in Neurology, 2023
37470010 (PubMed )
Supplement: Table_1.docx
The genetic counseling in a patient affected by congenital polyneuropathy after a "diagnostic odyssey" recently solved with WES approach.
Crimi M et al.
European Journal of Translational Myology, 2022
Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.
Chen YH et al.
The Journal of International Medical Research, 2020
Four novel cases of periaxin-related neuropathy and review of the literature.
Marchesi C et al.
Neurology, 2010
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