Hyang-Sook Kim

发表

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.

Impaired DNA-binding affinity of novel PAX6 mutations

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

Characterization of congenital myopathies at a Korean neuromuscular center

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

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

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

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.

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.

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.

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.

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.

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.

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.