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Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
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참고문헌 (10)
- Yokoseki A, "Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia", Brain, 134(Pt 5), pp.1387~1399 (2011)
- Date H, "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene", Nat Genet, 29, pp.184~188 (2001)
- Shimazaki H, "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia:the aprataxin gene mutations", Neurology, 59, pp.590~595 (2002)
- Kim JS, "Hereditary cerebellar ataxias: a Korean perspective", J Mov Disord, 8, pp.67~75 (2015)
- Anheim M, "Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management", Neurogenetics, 11, pp.1~12 (2010)
- Sasaki H, "Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan", J Neurol Sci, 175, pp.45~51 (2000)
- Tsuji S, "Clinical features and molecular genetics of autosomal recessive spinocerebellar degenerations", Rinsho Shinkeigaku, 44, pp.785~787 (2004)
- Schieving JH, "Alpha-fetoprotein, a fascinating protein and biomarker in neurology", Eur J Paediatr Neurol, 18, pp.243~248 (2014)
- Strupp M, "Central ocular motor disorders, including gaze palsy and nystagmus", J Neurol, 261(Suppl 2), pp.S542~S558 (2014)
관련 논문AI추천
A 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 제3호A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor강규식, 김병건, 이웅우, 이정주대한신경과학회 · Journal of Clinical Neurology2023 · 제19권 제5호Vertical Saccadic Slowing in Episodic Ataxia Type 2Hyo-Jung Kim, Seondeuk Kim, Seonkyung Lee, Seoyeon Kim대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제6호Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay류철형, 박성은, 서유리, 조현아, 한승한, 한진우대한안과학회 · Korean Journal of Ophthalmology2021 · 제35권 제4호Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar AtrophyChen Ling, Jianchun Wang, Yiming Zheng, Yunchuang Sun대한신경과학회 · Journal of Clinical Neurology2024 · 제20권 제5호A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations김수연, 이진숙, 채종희, 천정은, 최무림, 한지연대한신경과학회 · Journal of Clinical Neurology2020 · 제16권 제2호
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