Associated Papers
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Peripheral Nervous System (PNS) Myelin Diseases.
Scherer SS et al.
Cold Spring Harbor Perspectives in Biology, 2024
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S et al.
Turkish Neurosurgery, 2021
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
Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F.
Raasakka A et al.
Frontiers in Molecular Neuroscience, 2019
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
The use of whole-exome sequencing to disentangle complex phenotypes.
Williams HJ et al.
European Journal of Human Genetics : Ejhg, 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
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
Otagiri T et al.
Journal of Human Genetics, 2006
[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
Shimohata M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2005
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Parman Y et al.
Brain : a Journal of Neurology, 2004
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Kijima K et al.
Journal of Human Genetics, 2004
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
Renouil M et al.
Revue Neurologique, 0