Hyang‐Sook Kim

发表

Long‐term therapy with clevudine for chronic hepatitis B can be associated with myopathy characterized by depletion of mitochondrial DNA

Dong Kuck Lee, Sun Young Kim, C. Lee, 2009, Hepatology.

Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation

D. Yang, Young-Eun Park, Dae-Seong Kim, 2011, Journal of the Neurological Sciences.

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

T. Nam, Young-Eun Park, Dae-Seong Kim, 2012, Neuromuscular Disorders.

Characterization of congenital myopathies at a Korean neuromuscular center

Jin-Hong Shin, Young-Eun Park, Dae-Seong Kim, 2018, Muscle & nerve.

Comparison of Diagnostic Performances Between Cerebrospinal Fluid Biomarkers and Amyloid PET in a Clinical Setting.

Myung Jun Lee, Kyoungjune Pak, J. Seong, 2020, Journal of Alzheimer's disease : JAD.

Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

Jin-Hong Shin, Young-Eun Park, Dae-Seong Kim, 2018 .

1 Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia

D. Zee, Ji-Soo Kim, Hyo-Jung Kim, 2017, Journal of the Neurological Sciences.

SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia

Young-Eun Park, Dae-Seong Kim, Chang-Hoon Lee, 2011, Journal of clinical neurology.

Genetic Variants Associated with Episodic Ataxia in Korea

Ji-Soo Kim, Hyo-Jung Kim, Jin-Hong Shin, 2017, Scientific Reports.

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2

Jin-Hong Shin, J. Choi, Min-Ji Kim, 2013, Neurological Sciences.

Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita

Jin-Hong Shin, J. Bae, Dae-Seong Kim, 2009, Journal of Korean medical science.

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

Dae-Seong Kim, Kyu-Hyun Park, Young-Chul Choi, 2009, Journal of clinical neurology.

Late-onset episodic ataxia associated with SLC1A3 mutation

Ji-Soo Kim, Hyo-Jung Kim, J. Jen, 2016, Journal of Human Genetics.

Impaired DNA-binding affinity of novel PAX6 mutations

Jin-Hong Shin, J. Choi, Kwang-Dong Choi, 2020, Scientific Reports.

Limb‐girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations

Dae-Seong Kim, Hyang-Sook Kim, Ho-Jung Jang, 2012, Muscle & nerve.

Autonomic dysfunction in SCN9A-associated primary erythromelalgia

Ki-Jong Park, Dae-Seong Kim, Hyang‐Sook Kim, 2013, Clinical Autonomic Research.

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population

Je-Keun Rhee, Jin-Hong Shin, J. Choi, 2020, Frontiers in Neurology.

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia

T. Nam, Jin-Hong Shin, Sang Jin Kim, 2014, Journal of clinical neurology.

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family.

W. Seeley, Ho-Won Lee, SangYun Kim, 2011, Archives of neurology.

A novel PYGM mutation in a Korean patient with McArdle disease: The role of nonsense-mediated mRNA decay

E. Sohn, A. Lee, T. Fukuda, 2008, Neuromuscular Disorders.

Comparison of Amyloid in Cerebrospinal Fluid, Brain Imaging, and Autopsy in a Case of Progressive Supranuclear Palsy.

Myung Jun Lee, Kyoungjune Pak, W. Seeley, 2020, Alzheimer disease and associated disorders.

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

J. Seo, Jin-Hong Shin, J. Choi, 2018, Investigative ophthalmology & visual science.

Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases

Myung Jun Lee, Kyoungjune Pak, Young-Eun Kim, 2022, PloS one.

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome

Mervyn G. Thomas, Su-jin Kim, Jin-Hong Shin, 2021, Ophthalmic genetics.

The Frequency of c.34 C>T Mutant Allele in AMPD1 among Koreans

Dae-Seong Kim, Hyang‐Sook Kim, 2006 .

Transcriptional Down-Regulation of Major Histocompatibility Complex as a Possible Pathogenesis for Meniere's Disease

J. Choi, Kwang-Dong Choi, Seo-Young Choi, 2022, Frontiers in neurology.

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

C. Cheon, H. Yoo, J. Yoon, 2018, Korean journal of pediatrics.

Effects of Particulate Matter Exposure on the Eustachian Tube and Middle Ear Mucosa of Rats

Hyun Min Lee, Youn-Suk Son, I. Lee, 2023, Clinical and experimental otorhinolaryngology.

Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability

Jin-Hong Shin, J. Choi, Kwang-Dong Choi, 2018, Journal of Genetics.

Long‐term therapy with clevudine for chronic hepatitis B can be associated with myopathy characterized by depletion of mitochondrial DNA

Dong Kuck Lee, Sun Young Kim, C. Lee, 2009, Hepatology.