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Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?

Carbajal-Mamani SL, Markham MJ, Santolaya-Forgas J, Castagno J, Cardenas-Goicoechea J

A 50-year-old non-Hispanic white Caucasian female was diagnosed with breast cancer and was subsequently found to possess the tumorigenic ataxia telangiectasia mutated (ATM) and PALB2 variants but not the BRCA1...
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Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

Hong S, Lee SJ, Cho SR

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent...
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Serial Magnetic Resonance Imaging Findings in Hyperglycemia-Related Osmotic Demyelination Syndrome: A Case Report

Kim JH, Park NH, Park JY, Kim SJ

We report a rare case of hyperglycemia-related osmotic demyelination syndrome (ODS) with focus on the imaging findings. A 61-year-old man with diabetes was admitted for general weakness and severe thirst....
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The Rise of Cerebellar Ataxia in South Korea: 2002–2016

Park Y, Park KW

No abstract available.
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Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC

BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet...
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Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case

Lee C, Park KW, Choi N, Ryu HS, Chung SJ

No abstract available.
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A case of Wernicke's encephalopathy following complicated laparoscopic pylorus-preserving pancreaticoduodenectomy

Kim JS, Rho SY, Hwang HK, Lee WJ, Kang CM

Laparoscopic pylorus-preserving pancreaticoduodenectomy (PPPD)/pancreaticoduodenectomy (PD) is cautiously regarded as a safe and effective approach in well-selected patients with periampullary cancer. However, postoperative pancreatic fistula (POPF), delayed gastric emptying (DGE), postoperative...
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The Spectrum of Clinical and Urodynamic Findings in Patients with Spinal Tuberculosis Exhibiting Lower Urinary Tract Symptoms, before and after Spinal Surgical Intervention with Antitubercular Treatment: A Prospective Study

Shrivastava N, Singh P, Nayak B, Garg B

STUDY DESIGN: Observational study. PURPOSE: This study aims to assess the clinical and urodynamic parameters in patients with spinal tuberculosis (TB) exhibiting lower urinary tract symptoms (LUTS) at the time of...
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Bilateral Hearing Loss in Wernicke Encephalopathy

Bae H, Park JY, Cho HS, Lim SH, Ha SW

Wernicke encephalopathy is a syndrome caused by thiamine deficiency whose three typical symptoms are ophthalomoplegia, ataxia, and confusion. There are also rare reports of bilateral hearing loss, which can be...
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Biphasic Anaphylaxis and Delayed onset Cerebellar Ataxia following a Wasp Sting

Jeong H, Jung S, Yoon C, Cho E, Yang TW, Park KJ

Anaphylaxis usually develop immediately after wasp sting, but may develop even after few days later. Neurological complications after stings are uncommon, although several cases have been reported involving central and/or...
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A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia

Park H, Park MS, Ki CS, Cho J, Lee J, Kim J, Ahn K

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of...
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Dysphagia as a Clinical Manifestation of Monoclonal Gammopathy of Undetermined Significance: A Case Report

Koo H, Park GY, Han Y, Jeong S, Im S

Swallowing can be affected by a variety of systemic diseases. The etiology of dysphagia in the geriatric population is usually overlooked due mainly to a presumed diagnosis of presbyphagia or...
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Therapeutic Targeting of the DNA Damage Response Using an ATR Inhibitor in Biliary Tract Cancer

Nam AR, Jin MH, Park JE, Bang JH, Oh DY, Bang YJ

PURPOSE: The DNA damage response (DDR) is a multi-complex network of signaling pathways involved in DNA damage repair, cell cycle checkpoints, and apoptosis. In the case of biliary tract cancer...
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Time-Dependent Changes of Urethral Function in Diabetes Mellitus: A Review

Cao N, Gu B, Gotoh D, Yoshimura

This article reviewed the current knowledge on time-course manifestation of diabetic urethral dysfunction (DUD), and explored an early intervention target to prevent the contribution of DUD to the progression of...
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Long-term follow-up of optic neuritis associated with meningoencephalitis of unknown etiology in a Maltese dog

Jung SJ, Kim J, Plummer CE, Lee KC, Kim MS

A 6-year-old intact male Maltese dog presented with a history of blindness and ataxia. Neuro-ophthalmic examination revealed dilated pupils with absent pupillary light reflexes and menace response in both eyes....
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Bong JB, Kim SW, Lee ST, Choi JR, Shin HY

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar...
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Clinical Features of Acute Opthalmoplegia Associated with Anti-GQ1b Antibody

Han SH, Oh SY, Park KA

PURPOSE: To investigate the clinical features of acute ophthalmoplegia associated with anti-GQ1b antibody in the Republic of Korea. METHODS: From January 2011 to July 2018, we retrospectively reviewed the medical records...
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Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Kim H, Lee JS, Lee Y, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age....
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Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia

Jung SH, Chae SH, Hwangbo J, Kim HS, Lee YJ, Kim YS, Jung NY

Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare...
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Safety and Biodistribution of Human Bone Marrow-Derived Mesenchymal Stromal Cells Injected Intrathecally in Non-Obese Diabetic Severe Combined Immunodefi ciency Mice: Preclinical Study

Quesada MP, García-Bernal D, Pastor D, Estirado A, Blanquer M, García-Hernández AM, Moraleda J, Martínez

BACKGROUND: Mesenchymal stromal cells (MSCs) have potent immunomodulatory and neuroprotective properties, and have been tested in neurodegenerative diseases resulting in meaningful clinical improvements. Regulatory guidelines specify the need to perform...
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