Ah J. Lee

Gongju, Republic of Korea

Last Updated: 09/26/2026

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Found 16 publications

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: October 16, 2025

De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.

De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.

Journal: Genes & genomics

Published: March 11, 2025

Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.

Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.

Journal: Human genome variation

Published: December 20, 2024

SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.

SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.

Journal: Journal of the peripheral nervous system : JPNS

Published: December 12, 2024

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

Journal: International journal of molecular sciences

Published: May 16, 2024

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.

Journal: Genes

Published: March 19, 2024

Peripheral Neuropathy and Decreased Locomotion of a RAB40B Mutation in Human and Model Animals.

Peripheral Neuropathy and Decreased Locomotion of a RAB40B Mutation in Human and Model Animals.

Journal: Experimental neurobiology

Published: August 30, 2023

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Journal: Genes

Published: June 02, 2022

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.

Journal: Genes

Published: January 19, 2022

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

Journal: Genes & genomics

Published: November 14, 2021

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.

Journal: Life (Basel, Switzerland)

Published: April 20, 2021

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Journal: Molecular genetics & genomic medicine

Published: March 26, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026