Lista de obras - Young-Chul Choi - Dominio Público Uruguay

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Clinical and Genetic Characterization of Female Dystrophinopathy

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2016

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

artículo científico publicado en 2016

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.

artículo científico publicado en 2012

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.

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy ⬇️

artículo científico publicado el 18 de junio de 2013

Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy

artículo científico publicado en 2018

Congenital muscular dystrophy type 1A with residual merosin expression.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1.

artículo científico publicado en 2018

Facial Diplegia in Plasmodium vivax Malaria.

artículo científico publicado en 2010

First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico

Henoch-Schönlein Purpura Presenting as Mononeuritis Multiplex

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy ⬇️

artículo científico publicado el 21 de marzo de 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Partial Conduction Block as an Early Nerve Conduction Finding in Neurolymphomatosis

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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.

artículo científico publicado en 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

artículo científico publicado en 2019

Serum BAFF expression in patients with myasthenia gravis.

artículo científico

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

artículo científico publicado en 2012

Serum interleukin-27 expression in patients with myasthenia gravis

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Spinal cord involvement in Behçet's disease

artículo científico publicado en 2015

Subdural hemorrhage mimicking peripheral neuropathy

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

The Epidemiology of Myasthenia Gravis in Korea

artículo científico publicado en 2016

The assessment of routine electroencephalography in patients with altered mental status

artículo científico publicado en 2011

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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

artículo científico publicado en 2021

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Lista de obras de Young-Chul Choi

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

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

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

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

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

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

Clinical and Genetic Characterization of Female Dystrophinopathy

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

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

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

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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

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

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

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

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

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

Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy ⬇️

Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy

Congenital muscular dystrophy type 1A with residual merosin expression.

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

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

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

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

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

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

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

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

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1.

Facial Diplegia in Plasmodium vivax Malaria.

First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

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

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

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

Henoch-Schönlein Purpura Presenting as Mononeuritis Multiplex

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

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy ⬇️

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

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

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

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

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

Magnetic resonance tractography in a patient with alexia without agraphia

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

Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication

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

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

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

Partial Conduction Block as an Early Nerve Conduction Finding in Neurolymphomatosis

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

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

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

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

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

Progression of GNE Myopathy Based on the Patient-Reported Outcome

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

Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy

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

Serum BAFF expression in patients with myasthenia gravis.

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

Serum interleukin-27 expression in patients with myasthenia gravis

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

Spinal cord involvement in Behçet's disease

Subdural hemorrhage mimicking peripheral neuropathy

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

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

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

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

The Epidemiology of Myasthenia Gravis in Korea

The assessment of routine electroencephalography in patients with altered mental status

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

The prevalence of thyrotoxicosis-related seizures

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

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

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

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

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

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

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