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Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3

Farias AM, Appenzeller S, França MC, Martinez A, Etchebehere EE, Souza TF, Santos AO

OBJECTIVE: Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has...
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Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance...
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A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

Tariq H, Imran R, Naz S

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in...
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Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike

Lee WW, Jeon B, Kim R

Previously, we defined DRD as a syndrome of selective nigrostriatal dopamine deficiency caused by genetic defects in the dopamine synthetic pathway without nigral cell loss. DRD-plus also has the same...
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The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

Kim JS, Kwon S, Ki CS, Youn J, Cho JW

BACKGROUND AND PURPOSE: The etiologies and frequencies of cerebellar ataxias vary between countries. Our primary aim was to determine the frequency of each diagnostic group of cerebellar ataxia patients in...
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Superficial Siderosis of the Central Nervous System due to Spinal Ependymoma

Choi KE, Na SH, Jeong HS, Im JJ, Kim YD

A 75-year-old woman presented with a 3-year history of progressive hearing loss, gait ataxia, and cognitive impairment. Brain magnetic resonance imaging (MRI) with a time gradient echo sequence showed deposition...
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Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort

Sakakibara R, Tateno F, Kishi M, Tsuyusaki , Aiba Y, Terada H, Inaoka T, Sawai S, Kuwabara S, Nomura F

OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and...
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A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report

Hur MW, Ko A, Lee HJ, Lee JS, Kang HC

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the...
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Spinocerebellar Ataxia Type 8 Presenting as Ataxia without Definite Cerebellar Atrophy

Eo YJ, Kim SK, Kim SH, Jang JW

No abstract available.
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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated...
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Genetic Approach of Dizziness

Choi JH

Patients with recurrent vertigo/dizziness or unsteadiness are a heterogeneous group of complex disorders affecting the peripheral and central vestibular system. They represent a diagnostic challenge for the clinicians, and their...
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Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)

Park CH, Shin SY, Park H, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of External Quality Assessment Service

Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service...
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Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17

Kim GH, Chung SJ, Ryu HS, Kim J, Lee JJ, Choi SH, Lee J, Lee BH, Choi JH, Yoo HW

PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common...
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Distribution of five common subtypes of spinocerebellar ataxia in the Korean population

Choi IH, Kim GH, Lee BH, Choi JH, Yoo HW

PURPOSE: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more...
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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)

Jang MA, Shin SY, Park S, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

  • KMID: 2200443
  • J Lab Med Qual Assur.
  • 2014 Jun;36(2):71-83.
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for...
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Spinocerebellar Ataxia Type 2 with Only Clinical Feature of Memory Impairment: Case Report

Joo J, Han SW, Ha SW, Han JH, Kim DE, Yang Y

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements....
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Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease

Kim JS, Son TO, Youn J, Ki CS, Cho JW

BACKGROUND: Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied...
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Unstable Repeat Expansion in Neurodegenerative Dementias: Mechanisms of Disease

Yang HD, Ho DH, Seol W

The majority of neurodegenerative dementias are thought to result primarily from the misfolding, aggregation and accumulation of proteins which interfere with protein homeostasis in the brain. Some of them are...
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Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia

Kim HI, Ko JA, Kim JS, Park JH, Park SA, Lee TK, Sung KB

  • KMID: 2343377
  • J Korean Neurol Assoc.
  • 2010 Nov;28(4):301-303.
A 29-year-old man presented with involuntary head turning to the right. His family history showed that his mother and two maternal uncles had dysarthria and gait disturbance. Other than mild...
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Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2009)

Kim SH, Ki CS, Kim S, Kwon MJ, Kim JW, Park SS, Kim JS, Lee YK, Kong SY, Ki SJ, Han SH, Seo EJ, CHo HC, Kim EJ, Kim PW

  • KMID: 2200555
  • J Lab Med Qual Assur.
  • 2010 Jun;32(1):147-170.
BACKGROUND: The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommittee of KSQACL performed two trials for...
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