Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Takashima H et al.
Annals of Neurology, 2002
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Boerkoel CF et al.
American Journal of Human Genetics, 2001
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