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Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration

Park JK, Youn J, Cho JW

Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in...
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Recent Advances in the Development of Experimental Therapeutics for Levodopa-Induced Dyskinesia

Martini ML, Neifert SN, Mocco J, Panov F, Tse W, Walker RH, Jin J, Gupta F

No abstract available.
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Factors Affecting the Response to First-Line Treatments in Patients with Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Zhang X, Wang C, Zhu W, Wang B, Liang H, Guo S

BACKGROUND AND PURPOSE: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is the most common type of autoimmune encephalitis. This study aimed to explore the possible factors affecting the response to first-line treatments in...
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A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)

Park BM, Kim YO, Kim MK, Woo YJ

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual...
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Recurrent Belly Dancer's Dyskinesia with Pregnancy

Aldabbour , E'Leimat I, Alhayek K, Momani A

No abstract available.
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Pilot Study for Considering Subthalamic Nucleus Anatomy during Stimulation Using Directional Leads

Asahi T, Ikeda K, Yamamoto J, Tsubono H, Sato S

OBJECTIVE: Directional leads are used for deep brain stimulation (DBS). Two of the four contacts of the leads are divided into three parts, enabling controlled stimulation in a circumferential direction....
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Patients with Isolated Focal Right Ventricular Dyskinetic Segments: Toward a Better Understanding of This Cohort

Mansour MJ, Hamoui O, Asmar J, Chammas E, Ayoub W, Daher J, AlJaroudi

BACKGROUND: The 2010 revised Task Force criteria for the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) provided guidance for the classification of patients as definitive, borderline or possible ARVC. However,...
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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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Progressive Cervical Spondylotic Myelopathy Caused by Tic Disorders in a Young Adult with Tourette Syndrome

Kim J, Kim JY, Lee JM, Kang DH, Lee CH, Park IS, Lee YS

Involuntary movement of the cervical spine can cause damage to the cervical spinal cord. Cervical myelopathy may occur at an early age in involuntary movement disorders, such as tics. We...
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Paroxysmal Kinesigenic Dyskinesia Presented Following Concussion

Cottrill N, McCully B, Payne M

No abstract available.
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Less Pulsatile Levodopa Therapy (6 Doses Daily) Is Associated with a Reduced Incidence of Dyskinesia

Lin MM, Laureno R

OBJECTIVE: To evaluate whether less pulsatile levodopa therapy (LPT) can reduce the development of levodopa-induced dyskinesia (LID). METHODS: This is a retrospective cohort study of patients with Parkinson’s disease at the...
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Clinical Characteristics of Involuntary Movement in Hospitalized Patients

Kwon KY, Lee HM, Lee SM, Koh SB

OBJECTIVE: Neurological symptoms in hospitalized patients are not rare, and neurological consultation for movement disorders is especially important in evaluating or managing those with various movement disorders. Therefore, we investigated...
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Anti-N-methyl-D-aspartate Receptor Encephalitis after Herpes Simplex Virus Infection

Park IW, Kim YB, Chung PW, Moon HS, Suh BC, Yoon WT, Namgung DW, Kim HJ, Kim YK, Park SH

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis has clinical features of psychiatric symptoms, loss of memory, seizure, dyskinesia and autonomic dysfunction. While Anti-NMDA receptor encephalitis was initially reported in young women with ovarian...
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Hemiballismus in Uncontrolled Diabetes Mellitus

Jaafar J, Rahman RA, Draman N, Yunus NA

Hemiballismus, a subtype of chorea, is a rare movement disorder, and is most commonly found secondary to stroke. Movements are involuntary, violent, coarse, and have a wide amplitude. There is...
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Amantadine and the Risk of Dyskinesia in Patients with Early Parkinson's Disease: An Open-Label, Pragmatic Trial

Kim A, Kim YE, Yun JY, Kim HJ, Yang HJ, Lee WW, Shin CW, Park H, Jung YJ, Kim A, Kim Y, Jang M, Jeon B

OBJECTIVE: We examined whether amantadine can prevent the development of dyskinesia. METHODS: Patients with drug-naïve Parkinson's disease (PD), younger than 70 years of age and in the early stage of PD...
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Anesthetic management of a pediatric patient with Rett syndrome: A case report

Lee AR, Lee HK, Kim YU, Lee JH, Kang HJ, Park SH

Rett syndrome is a neurodevelopmental disease that almost always affects female patients. It is caused by mutations in MeCP2 in the majority of cases. Patients diagnosed with Rett syndrome may...
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Seven Cases of Successful Remission after Trial of Metoclopramide on Orofacial Dyskinesia of Stroke Patients: a Case Series

Bang MH, Hong J, Kim HS

Orofacial dyskinesia is a condition caused by various diseases in which the tongue, lips, or jaws move involuntarily. Up to now, the exact mechanism for these degenerative changes in the...
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Negative myoclonus associated with pregabalin

Park KD, Kim MK, Lee SJ

Negative myoclonus (NM) is a jerky, shock-like involuntary movement caused by a sudden, brief interruption of muscle contraction. An 80-year-old man presented with multifocal NM and confusion. Two days before...
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Paroxysmal Dyskinesia in Children: from Genes to the Clinic

Kim SY, Lee JS, Kim WJ, Kim H, Choi SA, Lim BC, Kim KJ, Chae JH

BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as...
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Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia

Kim A, Jang M, Kim HJ, Kim Y, Kim DS, Shin JH, Jeon B

No abstract available.
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