논문KCI 등재
Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
2
조회
0
다운로드
0
인용
0
참고문헌
주제분류안과학
참고문헌 (5)
- Thiffault I, "Diversity of ARSACS mutations in French-Canadians", Can J Neurol Sci, 40, pp.61~66 (2013)
- Bouchard JP, "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", Can J Neurol Sci, 5, pp.61~69 (1978)
- Baets J, "Mutations in SACS cause atypical and late-onset forms of ARSACS", Neurology, 75, pp.1181~1188 (2010)
- Parkinson MH, "Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay", Brain, 141, pp.989~999 (2018)
- Harding AE, "Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features", Brain, 104, pp.589~620 (1981)
관련 논문AI추천
Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report김난영, 김영은, 김윤중, 이민우, 허진영대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호Charlevoix-Saguenay의 상염색체열성강직실조김승우, 봉정빈, 신하영, 이승태, 최종락대한신경과학회 · 대한신경과학회지2019 · 제37권 제1호Spinocerebellar Ataxia Type 34: ELOVL4 Recurrent Mutation in a Different FamilyKarim Makhoul, Ritesh Ramdhani대한신경과학회 · Journal of Clinical Neurology2025 · 제21권 제4호Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease이현정, 정나연, Naomichi Matsumoto, Takeshi Mizuguchi대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제3호Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel TestingHee-Yeon Woo, Hyosoon Park, Kyunghoon Lee, Min-Jung Kwon, Min-Kyeong Kim, Suho Ro, Won Tae Yoon대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제6호A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1Christine Klein, Huan Zhang, Humera Manzoor, Ihtisham Bukhari, Muhammad Wajid, Norbert Brüggemann, Qinghua Shi, Sadaf Naz, Yuanwei Zhang대한신경과학회 · Journal of Clinical Neurology2017 · 제13권 제3호
이 간행물의 다른 논문 (13건)
Corneal Nerves Alteration Associated with Corneal Complications after Pars Plana VitrectomyGuangzheng Dai, Emmanuel Eric Pazo, Wei He, Hong Ye, Tiezhu Lin, Yang Xiapp. 255-260Safety and Efficacy of Selective Intra-arterial Thrombolysis for Central Retinal Artery OcclusionSi Sung Choi, 고상준, 신인철, 김대원, Yun Sik Yangpp. 261-271Cataract Surgery Practice in the Republic of Korea: A Survey of the Korean Society of Cataract and Refractive Surgery 2020한영근, 엄영섭, 노창래, 김은철, 정인권, 김진형, 한상엽, 정태영, 이도형pp. 272-279Real Life Data of Treat and Extend Intravitreal Ranibizumab and Aflibercept Therapy in Wet Age-related Macular Degeneration Patients: 3-Year ResultsElvan Alper Sengul, Ozgul Ugurtay, Alev Kockarpp. 280-286Evaluation of Macular and Retinal Nerve Fiber Layer Thickness in Children with Type 1 Diabetes Mellitus without RetinopathyEvelyn Li Min Tai, Ismail Mohd-Ilham, Hussain Suhaimi, Ismail Shatriahpp. 287-294
