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Late-Onset Dystonia With THAP1 Mutation (DYT6) in South Korea: A Case Report and Literature Review
대한신경과학회 (Korean Neurological Association)|2023.03|Journal of Clinical Neurology|제19권 제2호|pp. 198-200
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참고문헌 (10)
- Almasy L, "Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families", Ann Neurol, 42, pp.670~673 (1997)
- Fuchs T, "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia", Nat Genet, 41, pp.286~288 (2009)
- Dobričić VS, "Mutation screening of the DYT6", THAP1 gene in Serbian patients with primary dystonia, 2013, pp.260, 1037~1042
- Groen JL, "DYT6 dystonia : mutation screening, phenotype, and response to deep brain stimulation", Mov Disord, 25, pp.2420~2427 (2010)
- Danielsson A, "Pallidal deep brain stimulation in DYT6 dystonia : clinical outcome and predictive factors for motor improvement", J Clin Med, 8, pp.2163~ (2019)
- Xiao J, "Novel THAP1 sequence variants in primary dystonia", Neurology, 74, pp.229~238 (2010)
- Holla VV, "Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India", Parkinsonism Relat Disord, 78, pp.36~37 (2020)
- Millar Vernetti P, "Genetic diagnosis in movement disorders. Use of whole-exome sequencing in clinical practice", Tremor Other Hyperkinet Mov(N Y), 12, pp.12~ (2022)
- Houlden H, "THAP1 mutations(DYT6)are an additional cause of early-onset dystonia", Neurology, 74, pp.846~850 (2010)
- Söhn AS, "Prevalence of THAP1 sequence variants in German patients with primary dystonia", Mov Disord, 25, pp.1982~1986 (2010)
관련 논문AI추천
가족력이 없는 원발성염전이긴장증 환자의 DYT1 유전자 돌연변이유한욱, 이명종, 이창선, 임주혁, 정선주대한신경과학회 · 대한신경과학회지2003 · 제21권 제2호임상적 관점에서 본 Primary Dystonia와 Dystonia-plus Syndrome김희태대한신경과학회 · 대한신경과학회지2004 · 제22권 제6호A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia김윤중, 손영호, 신혜원, 유한수, 이진성, 이필휴, 이현주, 정석종, 홍상균대한신경과학회 · Journal of Clinical Neurology2018 · 제14권 제4호Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South KoreaHyo-Jung Kim, Jin-Ok Lee, Ji-Soo Kim, Seo Young Choi, So-Yeon Yun대한신경과학회 · Journal of Clinical Neurology2024 · 제20권 제6호염전 근긴장이상증 환자에서 페놀 운동점 차단 치료 -증례 보고-유성, 김성우, 박성진, 신정빈, 이선경, 이원석대한재활의학회 · Annals of Rehabilitation Medicine2006 · 제30권 제6호근육긴장이상떨림과 왼쪽 불완전마비를 동반한 경부척수-숨뇌 뇌경색 1예권오영, 김선혜, 김지은, 박기종, 손승남, 임병훈, 최낙천, 최지혜대한신경과학회 · 대한신경과학회지2005 · 제23권 제6호
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