Byung-Ok Choi

发表

Cytokines secreted by mesenchymal stem cells reduce demyelination in an animal model of Charcot-Marie-Tooth disease.

Myoung-Woo Lee, H. Jeon, H. Kim, 2022, Biochemical and biophysical research communications.

Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement

N. Kim, H. Jeon, Byung-Ok Choi, 2011, neurogenetics.

Comprehensive Analysis to Improve the Validation Rate for Single Nucleotide Variants Detected by Next-Generation Sequencing

Byung-Ok Choi, K. Chung, Mihyun Park, 2014, PloS one.

Zebrafish is a central model to dissect the peripheral neuropathy

Ji Eun Lee, Byung-Ok Choi, K. Chung, 2019, Genes & Genomics.

Fibulin 5, a human Wharton's jelly‐derived mesenchymal stem cells‐secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin‐RAC1 signaling axis

Ji Eun Lee, Byung-Ok Choi, J. Chang, 2020, Stem cells.

Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis

Chang-hyun Park, Byung-Ok Choi, Y. Choi, 2021, Journal of clinical medicine.

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Sachit Shah, J. Polke, M. Reilly, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Nanotopographical regulation of pancreatic islet-like cluster formation from human pluripotent stem cells using a gradient-pattern chip.

Deok‐Ho Kim, Byung-Ok Choi, Suel-Kee Kim, 2019, Acta biomaterialia.

Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy

Se Hoon Kim, S. Jang, Byung-Ok Choi, 2019, Scientific Reports.

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

G. Kwak, Byung-Ok Choi, Y. Hong, 2018, Muscle & nerve.

Autophagy induction in the skeletal myogenic differentiation of human tonsil-derived mesenchymal stem cells

Byung-Ok Choi, I. Jo, Jung-Hyuck Ahn, 2017, International journal of molecular medicine.

Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy

Hoon-Chul Kang, Byung-Ok Choi, H. Kim, 2014, Yonsei medical journal.

Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene

이혜진, Byung-Ok Choi, K. Chung, 2011 .

Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients

Seonwoo Kim, Byung-Ok Choi, Hyun Su Kim, 2021, Scientific Reports.

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

A. Mégarbané, L. Santoro, Y. Parman, 2019, Annals of neurology.

Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study

Byung-Ok Choi, Hyun Su Kim, K. Chung, 2021, Journal of the peripheral nervous system : JPNS.

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy

Byung-Ok Choi, K. Chung, D. Nam, 2020, Genes & Genomics.

Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements

Byung-Ok Choi, G. Song, K. Chung, 2020, Molecular genetics & genomic medicine.

Psychoacoustics and neurophysiological auditory processing in patients with Charcot‐Marie‐Tooth disease types 1A and 2A

Byung-Ok Choi, I. Moon, S. Hong, 2020, European journal of neurology.

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Byung-Ok Choi, I. Moon, S. Hong, 2018, Scientific Reports.

Clinical characterization and genetic analysis of Korean patients with X‐linked Charcot‐Marie‐Tooth disease type 1

Byung-Ok Choi, Y. Hong, K. Chung, 2017, Journal of the peripheral nervous system : JPNS.

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

Deok‐Ho Kim, H. Koo, H. Kim, 2015, Annals of human genetics.

Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

H. Koo, Byung-Ok Choi, Y. S. Hyun, 2011 .

Genetics of Hereditary Peripheral Neuropathies

Byung-Ok Choi, S. Cho, S. Cho, 2009 .

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

Byung-Ok Choi, Joonki Kim, J. Yoo, 2008, Experimental & Molecular Medicine.

Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations

Byung-Ok Choi, B. Suh, D. Shim, 2007 .

Electrophysiological Characteristics of Genetically Confirmed Charcot-Marie-Tooth 1A.

Byung-Ok Choi, B. Suh, I. Sunwoo, 2006 .

Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations

Ji Eun Lee, H. Kim, Byung-Ok Choi, 2021, Molecular genetics & genomic medicine.

Comparison of Nerve Conduction Studies between the Patients with Hereditary Neuropathy with Liability to Pressure Palsies and Charcot-Marie-Tooth1A

J. Kim, Byung-Ok Choi, I. Sunwoo, 2004 .

Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

Byung-Ok Choi, S. Kim, Hee-Jin Kim, 2006 .

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease

Y. Suh, Byung-Ok Choi, K. Chung, 2018, Genes & Genomics.

A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: Clinical, neuroimaging, and neuropathological findings

Jungeun Kim, SangYun Kim, S. An, 2012, Neuroscience Letters.

Foot Deformity in Charcot Marie Tooth Disease According to Disease Severity

Byung-Ok Choi, S. Jung, S. Cho, 2011, Annals of rehabilitation medicine.

Wide phenotypic spectrum in axonal Charcot–Marie–Tooth neuropathy type 2 patients with KIF5A mutations

Byung-Ok Choi, K. Chung, D. Nam, 2017, Genes & Genomics.

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.

Byung-Ok Choi, K. Chung, D. Nam, 2017, Mitochondrion.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2013, Orphanet Journal of Rare Diseases.

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1

J. Yun, Byung-Ok Choi, K. Chung, 2008, Journal of Human Genetics.

Electrophysiological Characteristics of Charcot-Marie-Tooth Patients with Mutations in Neurofilament Light Chain (NEFL) Gene

Byung-Ok Choi, H. Cho, K. Park, 2007 .

Charcot-Marie-Tooth Disease: Seventeen Causative Genes

Byung-Ok Choi, Jung-Hwa Lee, 2006, Journal of clinical neurology.

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

H. Koo, Byung-Ok Choi, J. Yoo, 2013, Neuromuscular Disorders.

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

Hyunjung Choi, I. Mook‐Jung, Byung-Ok Choi, 2016, Stem cells international.

HDAC 6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB 1 Mutation

Hyunjung Choi, I. Mook‐Jung, Byung-Ok Choi, 2016 .

Overexpression of mutant HSP27 causes axonal neuropathy in mice

G. Kwak, Byung-Ok Choi, Y. Hong, 2015, Journal of Biomedical Science.

A Family Harboring CMT1A Duplication and HNPP Deletion

Byung-Ok Choi, Joonki Kim, K. Chung, 2007, Journal of clinical neurology.

Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy

Se Hoon Kim, S. Jang, Byung-Ok Choi, 2019, Scientific Reports.

Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion

J. Y. Choi, Byung-Ok Choi, K. Chung, 2004, Experimental & Molecular Medicine.

Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A

H. Kim, H. Doo, G. Kwak, 2021, Current issues in molecular biology.

A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot–Marie–Tooth disease type 1A

Soyeon Jeong, G. Kwak, Byung-Ok Choi, 2020, British journal of pharmacology.

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

H. Koh, Byung-Ok Choi, Y. Hong, 2019, Biochemical and biophysical research communications.

Analyzing clinical and genetic aspects of axonal Charcot–Marie-Tooth disease

Byung-Ok Choi, Hyeonjin Kwon, 2021, Journal of Genetic Medicine.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

A. Franke, R. Płoski, Michael A. Gonzalez, 2014, American journal of human genetics.

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

Byung-Ok Choi, Y. Hong, K. Chung, 2016, Molecular medicine reports.

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy

Ji Eun Lee, H. Kim, Won Min Mo, 2016, Annals of neurology.

Axonal Charcot‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH

Byung-Ok Choi, G. Kim, Song-Ja Kim, 2017, Journal of the peripheral nervous system : JPNS.

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations

H. Kim, Byung-Ok Choi, Hyun Su Kim, 2020, Journal of clinical neurology.

Two recessive intermediate Charcot‐Marie‐Tooth patients with GDAP1 mutations

H. Koo, Byung-Ok Choi, J. Yoo, 2011, Journal of the peripheral nervous system : JPNS.

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

Byung-Ok Choi, Joonki Kim, K. Chung, 2008, Journal of Human Genetics.

Comparison of Clinical and Electrophysiological Characteristics between CMTX with Cx32 Missense Mutation and CMT1A with PMP22 Duplication

Byung-Ok Choi, K. Chung, I. Sunwoo, 2004 .

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

H. Koo, G. Kwak, Won Min Mo, 2016, PLoS genetics.

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

Se Hoon Kim, Byung-Ok Choi, Y. Hong, 2019, Annals of clinical and translational neurology.

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

E. Chang, G. Kwak, Won Min Mo, 2017, Neurobiology of Disease.

Novel homozygous mutations in Pakistani families with recessive Charcot-Marie-Tooth disease

Byung-Ok Choi, K. Chung, S. Kanwal, 2021 .

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

Byung-Ok Choi, Y. Hong, Y. S. Hyun, 2016, Brain : a journal of neurology.

Genotype–phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations

Byung-Ok Choi, Y. Hong, K. Chung, 2016, Genes & Genomics.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2013, BMC Medical Genetics.

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

J. Kim, Ji Eun Lee, H. Koo, 2016, Human mutation.

Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis

G. Kwak, Byung-Ok Choi, S. Yeom, 2021, Disease models & mechanisms.

Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy

H. Koo, Byung-Ok Choi, K. Chung, 2010, neurogenetics.

Myelin Protein Zero (MPZ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth- Clinical and Electrophysiological Characteristics -

Byung-Ok Choi, H. Cho, K. Chung, 2005 .

A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient

Byung-Ok Choi, K. Chung, I. Sunwoo, 2004 .

X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene.

Byung-Ok Choi, J. Hwang, K. Chung, 2004 .

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

H. Doo, E. Chang, Won Min Mo, 2019, International journal of molecular medicine.

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

Byung-Ok Choi, Y. Hong, S. Yoo, 2015 .

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

S. Züchner, Jong-Won Kim, H. Koo, 2011, Human mutation.

Myogenic differentiation potential of human tonsil-derived mesenchymal stem cells and their potential for use to promote skeletal muscle regeneration

Byung-Ok Choi, I. Jo, K. Ryu, 2016, International journal of molecular medicine.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2016, Molecular medicine reports.

Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients

Ji Eun Lee, Byung-Ok Choi, Kyung Suk Lee, 2019, Journal of Human Genetics.

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

G. Kwak, Byung-Ok Choi, Y. Hong, 2016, Molecules and cells.

Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.

Byung-Ok Choi, Joonki Kim, J. Hwang, 2007, Molecules and cells.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Y. Parman, E. Battaloğlu, Byung-Ok Choi, 2019, neurogenetics.

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

G. Kwak, Byung-Ok Choi, Y. Hong, 2016, International journal of molecular sciences.

Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V

Byung-Ok Choi, K. Chung, Y. Hur, 2012, Journal of the peripheral nervous system : JPNS.

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

K. Seong, H. Jeon, Byung-Ok Choi, 2010, Experimental & Molecular Medicine.

Overexpression of mutant HSP27 causes axonal neuropathy in mice

G. Kwak, Byung-Ok Choi, Y. Hong, 2015, Journal of Biomedical Science.

Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease

Byung-Ok Choi, Y. S. Hyun, K. Chung, 2012, Human mutation.

Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

Byung-Ok Choi, S. H. Nam, 2019, Precision and Future Medicine.

Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy

H. Koo, Byung-Ok Choi, K. Chung, 2012, Genes & Genomics.

Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A

Byung-Ok Choi, K. Chung, Sung-Chul Jung, 2018, International journal of molecular sciences.

Missense mutations of mitofusin 2 in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?

Byung-Ok Choi, K. Chung, K. Nakhro, 2013 .

Anti-apoptotic Effects of Human Wharton's Jelly-derived Mesenchymal Stem Cells on Skeletal Muscle Cells Mediated via Secretion of XCL1.

D. Na, Brian Hyung, Ji Eun Lee, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

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

H. Koo, Byung-Ok Choi, Jae-Won Hyun, 2011, International journal of molecular medicine.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

F. Baas, S. Züchner, G. Beecham, 2019, Annals of neurology.

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

Byung-Ok Choi, K. Chung, Jinho Lee, 2014, Journal of Human Genetics.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

P. Tsai, Yi-Chung Lee, S. Züchner, 2017, Brain : a journal of neurology.

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

Soohyun Hwang, Byung-Ok Choi, Hyun Su Kim, 2021, Life.

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot‐Marie‐Tooth neuropathy patients

Byung-Ok Choi, J. Hwang, K. Chung, 2004, Human mutation.

Loss‐of‐function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system

K. Suk, Maan-Gee Lee, Byung-Ok Choi, 2020, Glia.

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Ji Hoon Park, H. Kim, Byung-Ok Choi, 2013, Molecular medicine reports.

Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype

Byung-Ok Choi, Sun Wha Park, J. Hwang, 2011, Genes & Genomics.

Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

Byung-Ok Choi, Eunja Kim, B. Suh, 2015 .

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

F. Baas, S. Züchner, G. Beecham, 2014, Human molecular genetics.

Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy

Byung-Ok Choi, Y. Hong, N. Park, 2020, Experimental neurobiology.

Genotype–phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations

Byung-Ok Choi, Y. Hong, K. Chung, 2016, Genes & Genomics.

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

H. Koo, Byung-Ok Choi, Y. Hong, 2013, Neuromuscular Disorders.

X-linked Charcot-Marie-Tooth disease type 1

Byung-Ok Choi, S. M. Kim, H. Park, 2014 .

Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers

J. Lee, Byung-Ok Choi, Jae-Hun Kim, 2020, European Radiology.

Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Y. Oh, Byung-Ok Choi, Y. Hong, 2021, Genomics & informatics.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2013, Orphanet Journal of Rare Diseases.

Tonsil-derived mesenchymal stromal cells: evaluation of biologic, immunologic and genetic factors for successful banking.

Byung-Ok Choi, I. Jo, S. Woo, 2012, Cytotherapy.

X‐linked Charcot‐Marie‐Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

Byung-Ok Choi, Y. Hong, Anna H. Siddell, 2016, Journal of the peripheral nervous system : JPNS.

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

Min Goo Lee, J. Lee, H. Koo, 2013, JAMA neurology.

Wide Phenotypic Spectrum of PNMHH Patients With p.R941L Mutation in MYH14

Byung-Ok Choi, K. Chung, Hyeonjin Kwon, 2022, Journal of clinical neurology.

HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D).

Jennifer Hesson, H. Doo, Byung-Ok Choi, 2021, Advanced biology.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2014, Journal of clinical neurology.

Clinical Features, Disability and Socioeconomic Status of Patients With Muscular Dystrophy in Korea

Seung-Hun Oh, Jin-Ho Kim, Byung-Ok Choi, 2009 .

CEP41‐mediated ciliary tubulin glutamylation drives angiogenesis through AURKA‐dependent deciliation

In Young Lee, J. Kim, Ji Eun Lee, 2019, EMBO reports.

Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing

Hyun Seok Song, H. Kim, Byung-Ok Choi, 2014 .

Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

Byung-Ok Choi, K. Chung, S. Kanwal, 2021, BMC medical genomics.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Yi-Chung Lee, L. Santoro, G. Ravenscroft, 2018, American journal of human genetics.

MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes

H. Kim, Byung-Ok Choi, Sang Beom Kim, 2022, Journal of Electrodiagnosis and Neuromuscular Diseases.

Muscle fat quantification using magnetic resonance imaging: case–control study of Charcot–Marie–Tooth disease patients and volunteers

W. Jin, Byung-Ok Choi, Hyun Su Kim, 2019, Journal of cachexia, sarcopenia and muscle.

Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family

Byung-Ok Choi, Y. Hong, K. Chung, 2018, Journal of the peripheral nervous system : JPNS.

Ser135Phe mutation in HSPB1 (HSP27) from Charcot–Marie–Tooth disease type 2F families

H. Kim, Byung-Ok Choi, Y. Hong, 2015, Genes & Genomics.

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis

H. Kim, Byung-Ok Choi, Y. Hong, 2014, Journal of the peripheral nervous system : JPNS.

Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction

S. An, Byung-Ok Choi, Y. Youn, 2014, BMC Neurology.

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

Ji Hoon Park, H. Koo, Byung-Ok Choi, 2015, Molecular medicine reports.

Clinical and Neuropsychological Comparisons of Early-Onset Versus Late-Onset Frontotemporal Dementia: A CREDOS-FTD Study.

D. Yang, D. Na, B. S. Ye, 2015, Journal of Alzheimer's disease : JAD.

Diffusion tensor imaging of the sciatic nerve in Charcot–Marie–Tooth disease type I patients: a prospective case–control study

W. Jin, Byung-Ok Choi, Jae-Hun Kim, 2019, European Radiology.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2015, BMC Neurology.

Association between Elevated Homocysteine Concentration and Alzheimer's Disease, Vascular Dementia, and Mild Cognitive Impairment

J. Yun, Byung-Ok Choi, Hee-Jin Kim, 2006 .

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease

Y. Suh, Byung-Ok Choi, K. Chung, 2018, Genes & Genomics.

Clinical and Neuropsychological Characteristics of a Nationwide Hospital-Based Registry of Frontotemporal Dementia Patients in Korea: A CREDOS-FTD Study

D. Na, J. Jeong, Byeong-Chae Kim, 2014, Dementia and Geriatric Cognitive Disorders Extra.

Clinical, Electrophysiological and Pathological Characteristics in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) with Chromosome 17p11.2-p12 Deletion.

Byung-Ok Choi, I. Sunwoo, Jung-kyo Lee, 2001 .

Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease

H. Jeon, E. Chang, G. Kwak, 2021, Animal cells and systems.

Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice

Seokjoong Kim, H. Doo, G. Kwak, 2019, Nucleic acids research.

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

Byung-Ok Choi, Y. Hong, K. Chung, 2014, Journal of clinical neurology.

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

Byung-Ok Choi, Y. Hong, B. Suh, 2014, Molecular medicine reports.

Distal myopathy with ADSSL1 mutations in Korean patients

J. Lee, Byung-Ok Choi, J. H. Lee, 2017, Neuromuscular Disorders.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2013, Neurology.

A novel Gly137Asp MPZ mutation in a Charcot-Marie-Tooth disease type 1B family

Byung-Ok Choi, K. Chung, Hye-Jin Lee, 2011, Genes & Genomics.

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

Byung-Ok Choi, K. Chung, D. Yoo, 2016, Journal of clinical neurology.

Neural cell adhesion molecule 1 is a cellular target engaged plasma biomarker in demyelinating Charcot–Marie–Tooth disease

Byung-Ok Choi, H. Park, Y. Jo, 2023, European journal of neurology.

PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models

H. Koh, J. Yun, Byung-Ok Choi, 2023, Biomedicines.

Human Induced Pluripotent Stem Cell-Derived TDP-43 Mutant Neurons Exhibit Consistent Functional Phenotypes Across Multiple Gene Edited Lines Despite Transcriptomic and Splicing Discrepancies

Deok‐Ho Kim, Jennifer Hesson, Byung-Ok Choi, 2021, Frontiers in Cell and Developmental Biology.

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

H. Koo, Byung-Ok Choi, Y. Hong, 2014, neurogenetics.

Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness

H. Kim, Byung-Ok Choi, B. R. Yoon, 2014, Journal of Genetics.

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

D. Na, C. Ki, J. Jeong, 2014, Neurobiology of Aging.

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families

Byung-Ok Choi, Joonki Kim, G. Kim, 2007, Journal of Human Genetics.

Two Families of Andersen's Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations

Byung-Ok Choi, B. Suh, K. Chung, 2006 .

A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy

Su Jung Lee, Byung-Ok Choi, K. Chung, 2018, Journal of Clinical Neurology.

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

Chang-hyun Park, Byung-Ok Choi, Y. Hong, 2017, Annals of neurology.

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

H. Kim, G. Kwak, Byung-Ok Choi, 2019, Experimental neurobiology.

Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population

Ji Hwan Park, Byung-Ok Choi, Sun Wha Park, 2009, Journal of Genetics.

A MELAS syndrome family harboring two mutations in mitochondrial genome

Byung-Ok Choi, Joonki Kim, Hyang-Woon Lee, 2008, Experimental & Molecular Medicine.

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Byung-Ok Choi, I. Moon, S. Hong, 2018, Scientific Reports.

Dynamic Transcriptional Events in Distal Sural Nerve Revealed by Transcriptome Analysis

Byung-Ok Choi, Y. Hong, H. Moon, 2014, Experimental neurobiology.

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

Byung-Ok Choi, Sun Wha Park, K. Chung, 2009, Journal of Korean medical science.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

F. Baas, S. Züchner, G. Beecham, 2019, Journal of neuromuscular diseases.

Ultrasonography-guided transplantation facilitates perineural delivery of stem cells

Byung-Ok Choi, Y. Hong, Sang-beom Kim, 2015 .

Different clinical and magnetic resonance imaging features between Charcot–Marie–Tooth disease type 1A and 2A

M. Shy, Byung-Ok Choi, B. Suh, 2008, Neuromuscular Disorders.

Zebrafish is a central model to dissect the peripheral neuropathy

Ji Eun Lee, Byung-Ok Choi, K. Chung, 2019, Genes & Genomics.

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

Byung-Ok Choi, Y. Hong, Sung-Hee Kim, 2013, Journal of clinical neurology.

Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A

Byung-Ok Choi, K. Chung, D. Nam, 2018, Neuromuscular Disorders.

Clinical and Genetic Characteristics in Patients of Charcot-Marie-Tooth type 2A with Mitofusin 2 (MFN2) Mutations.

Byung-Ok Choi, B. Suh, Jee-young Oh, 2006 .

A Family of Bethlem Myopathy

Byung-Ok Choi, B. Suh, D. Shim, 2006 .

Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V

Byung-Ok Choi, Y. Hur, Hye-Jin Lee, 2012, Journal of the peripheral nervous system : JPNS.

Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients

Ji Eun Lee, Byung-Ok Choi, Kyung Suk Lee, 2019, Journal of Human Genetics.