List of works - Byung-Ok Choi

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

scientific article published in February 2016

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

scientific article

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

scientific article

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

scientific article published on 4 December 2014

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

scientific article published on 21 June 2013

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

scientific article

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

scientific article published on 5 October 2015

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy

scientific journal article

Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.

scientific article

Application of differentiated human tonsil-derived stem cells to trembler-J mice

scientific article

Cerebral white matter abnormalities in patients with charcot-marie-tooth disease

scientific article published on 18 November 2016

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

scientific article

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations

scientific article published on 21 April 2016

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

scientific article published on 20 January 2016

Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1

article

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

scientific article published on June 2008

Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

scientific article published on 22 August 2016

Dynamic transcriptional events in distal sural nerve revealed by transcriptome analysis

scientific article

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

scientific article

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

scientific article published on 31 October 2013

Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy

scientific article published on 01 June 2020

HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation

scientific article

Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila

scientific article published on 17 October 2019

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

scientific article published on 30 March 2016

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

scientific article published on 18 April 2011

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

scientific article published on 12 July 2013

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

scientific article

Overexpression of mutant HSP27 causes axonal neuropathy in mice

scientific article published on 19 June 2015

Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo

scientific article published on 17 January 2017

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene

scientific article

Proximal lower-limb weakness in Charcot-Marie-Tooth disease-reply

scientific article published on 01 December 2013

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

scientific article

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

scientific article published on 04 May 2016

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.

scientific article published on 7 June 2013

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication

scientific article published on 11 December 2014

Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A

scientific article published on 11 October 2020

Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders

scientific article published on 01 April 2022

Tonsil-Derived Mesenchymal Stem Cells Differentiate into a Schwann Cell Phenotype and Promote Peripheral Nerve Regeneration

scientific article published on 9 November 2016

Ultrasonography-guided transplantation facilitates perineural delivery of stem cells

miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22

p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies

scientific article published on 02 July 2019

List of works by Byung-Ok Choi

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy

Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.

Application of differentiated human tonsil-derived stem cells to trembler-J mice

Cerebral white matter abnormalities in patients with charcot-marie-tooth disease

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

Dynamic transcriptional events in distal sural nerve revealed by transcriptome analysis

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy

HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation

Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Overexpression of mutant HSP27 causes axonal neuropathy in mice

Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene

Proximal lower-limb weakness in Charcot-Marie-Tooth disease-reply

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication

Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A

Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders

Tonsil-Derived Mesenchymal Stem Cells Differentiate into a Schwann Cell Phenotype and Promote Peripheral Nerve Regeneration

Ultrasonography-guided transplantation facilitates perineural delivery of stem cells

miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22

p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies