Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
The RhoGEF protein Plekhg5 self-associates via its PH domain to regulate apical cell constriction.
Popov IK et al.
Molecular Biology of the Cell, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z et al.
European Journal of Neurology, 2021
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.
Gonzalez-Quereda L et al.
Annals of Clinical and Translational Neurology, 2021
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J et al.
Journal of Neurology, 2017
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Kim HJ et al.
Orphanet Journal of Rare Diseases, 2013
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