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List of works by Young-Chul Choi

A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.

scientific article published on 31 October 2013

A familial case of Lambert-Eaton myasthenic syndrome with small cell lung cancer.

scientific article

An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene.

scientific article published in August 2005

Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis

scientific article published on September 2017

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

scientific article

Clinical and Electrophysiologic Responses to Acetylcholinesterase Inhibitors in MuSK-Antibody-Positive Myasthenia Gravis: Evidence for Cholinergic Neuromuscular Hyperactivity

scientific article

Clinical and Genetic Characterization of Female Dystrophinopathy

scientific article published on 28 May 2015

Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

scientific article published on 27 December 2017

Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.

scientific article published on 06 January 2014

Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.

scientific article published on 17 November 2016

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

scientific article

Clinical and Radiographic Characteristics of Neuro-Behçet's Disease in South Korea

scientific article published on 01 October 2019

Clinical and electromyographic features of radiation-induced lower cranial neuropathy.

scientific article

Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestations

scientific article published on 05 April 2018

Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.

scientific article

Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy

scientific article published on May 2013

Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

scientific article

Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy

scientific article published on 22 November 2018

Congenital muscular dystrophy type 1A with residual merosin expression.

scientific article published on 31 March 2014

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I.

scientific article

Differences between the measured and calculated free serum phenytoin concentrations in epileptic patients.

scientific article published on 19 August 2009

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

scientific article published on 29 July 2016

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

scientific article

Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.

scientific article published on 12 November 2014

Effect of thymectomy in elderly patients with non-thymomatous generalized myasthenia gravis

scientific article published on 06 February 2019

Elevated serum level of interleukin-32α in the patients with myasthenia gravis

scientific article published on 13 April 2011

Elucidation of Relevant Neuroinflammation Mechanisms Using Gene Expression Profiling in Patients with Amyotrophic Lateral Sclerosis

scientific article

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1.

scientific article published in March 2018

Facial Diplegia in Plasmodium vivax Malaria.

scientific article published on 30 June 2010

First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

scientific article published on 01 October 2020

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy

scientific article

Fluid-attenuated inversion recovery hyperintense vessels in posterior cerebral artery infarction.

scientific article published on 05 April 2013

Functional outcomes in Duchenne muscular dystrophy scoliosis: comparison of the differences between surgical and nonsurgical treatment.

scientific article published on March 2014

Henoch-Schönlein Purpura Presenting as Mononeuritis Multiplex

scientific article published on 31 October 2017

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)

scientific article published on 01 April 2020

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy ⬇️

scientific article published on March 21, 2012

Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients.

scientific article published on January 2012

Impact of smoking on neurodegeneration and cerebrovascular disease markers in cognitively normal men.

scientific article

Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects.

scientific article published on 28 December 2017

Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1.

scientific article published on 11 August 2015

Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients

scientific article published on 30 June 2018

Magnetic resonance tractography in a patient with alexia without agraphia

scientific article published on 06 December 2005

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

scientific article published on 22 December 2005

Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication

scientific article published on 26 October 2018

Neuromyelitis optica with brainstem lesion mistaken for brainstem glioma. Case report.

scientific article published in September 2007

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

scientific article

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

scientific article published on July 2017

Partial Conduction Block as an Early Nerve Conduction Finding in Neurolymphomatosis

scientific article published on 27 December 2017

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.

scientific article published in April 2018

Pneumomediastinum due to intractable hiccup as the presenting symptom of multiple sclerosis.

scientific article published on April 2005

Prediction of early clinical severity and extent of neuronal damage in anterior-circulation infarction using the initial serum neuron-specific enolase level.

scientific article published in January 2003

Predictive factors for myasthenic crisis after videoscopic thymectomy in patients with myasthenia gravis

scientific article published on 05 March 2015

Prevalence of anti-ganglioside antibodies and their clinical correlates with guillain-barré syndrome in Korea: a nationwide multicenter study

scientific article

Progression of GNE Myopathy Based on the Patient-Reported Outcome

scientific article published on 01 July 2019

Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V.

scientific article published on 3 June 2016

Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 01 September 2018

Risk of osteoporosis in patients with chronic inflammatory neuropathy- a population-based cohort study

scientific article published on 24 June 2019

Serum BAFF expression in patients with myasthenia gravis.

scientific article published on 30 June 2008

Serum and cerebrospinal fluid neuron-specific enolase for diagnosis of tuberculous meningitis

scientific article

Serum interleukin-27 expression in patients with myasthenia gravis.

scientific article published on 28 September 2015

Serum neuron-specific enolase level as a biomarker in differential diagnosis of seizure and syncope.

scientific article published on 8 June 2010

Spinal cord involvement in Behçet's disease

scientific article published on 19 October 2015

Subdural hemorrhage mimicking peripheral neuropathy

scientific article

Successful Extubation After Weaning Failure by Noninvasive Ventilation in Patients With Neuromuscular Disease: Case Series.

scientific article published on 29 June 2017

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

scientific article published on 16 March 2015

Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population

scientific article published on 10 March 2017

The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations

scientific article published on 01 October 2018

The Epidemiology of Myasthenia Gravis in Korea

scientific article published on March 2016

The assessment of routine electroencephalography in patients with altered mental status

scientific article published on November 2011

The expression of BAFF in the muscles of patients with dermatomyositis.

scientific article published on 09 May 2012

The prevalence of thyrotoxicosis-related seizures

scientific article published on 01 September 2010

The role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: a 6-year follow-up study

scientific article published on April 2014

The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.

scientific article

Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy

scientific article

Treatment of spontaneous cervical spinal subdural hematoma with methylprednisolone pulse therapy.

scientific article published on July 2011

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

scientific article published on 01 January 2021

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.

scientific article

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.

scientific article published on 31 January 2012

Unusual cortical involvement in aquaporin-4 antibody-positive patients: An analysis with double inversion recovery and phase-sensitive inversion recovery imaging

scientific article published on 07 January 2019

Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement

scientific article

Whole-genome analysis in Korean patients with autoimmune myasthenia gravis.

scientific article published on April 2014

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