Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
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
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
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
Tokunaga S et al.
Neurogenetics, 2012
Four novel cases of periaxin-related neuropathy and review of the literature.
Marchesi C et al.
Neurology, 2010
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Parman Y et al.
Brain : a Journal of Neurology, 2004
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Takashima H et al.
Annals of Neurology, 2002
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