Associated Papers
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
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
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 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
Schwann Cell O-GlcNAc Glycosylation Is Required for Myelin Maintenance and Axon Integrity.
Kim S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
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
[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
Shimohata M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2005
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Kijima K et al.
Journal of Human Genetics, 2004
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Takashima H et al.
Annals of Neurology, 2002
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Guilbot A et al.
Human Molecular Genetics, 2001
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
Renouil M et al.
Revue Neurologique, 0
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