제 3형 척수소뇌실조 환자의 한방 치험 1례

허희수 ,  이명화 ,  김경민 외 1명

대한한방내과학회지

2016 .01

Breeding and characterization of Spinocerebellar Ataxia type 1 model mice

Min Hyeak Lee ,  Seo Young Choi ,  Hye Jin Ryu 외 3명

한국실험동물학회 학술발표대회 논문집

2022 .07

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families

손효신 ,  Jihoon G. Yoon ,  Man Jin Kim 외 2명

Journal Of Movement Disorders

2023 .01

Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17

Kim ,  Gu-Hwan ,  Chung 외 17명

Journal of genetic medicine

2015 .01

제2형 척수소뇌실조 환자 치험 1례

안다영 ,  한승희 ,  남현서 외 3명

대한한방내과학회지

2021 .10

Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing

Min-Kyeong Kim ,  Kyunghoon Lee ,  Hee-Yeon Woo 외 5명

Annals of Laboratory Medicine

2020 .01

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family

Shilin Yang ,  Shufen Chen ,  Yu-Qiong Jiao 외 3명

Journal of Clinical Neurology

2020 .01

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

Huma Ta ,  iq ,  Rashid Im 외 2명

Journal of Clinical Neurology

2018 .01

A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor

허민우 ,  고아라 ,  이현주 외 2명

대한소아신경학회지

2017 .01

New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia

Yannic Saathoff ,  Saskia Biskup ,  Claudia Funke 외 2명

Journal Of Movement Disorders

2021 .01

Antisaccades in Spinocerebellar Ataxia Type 17 With Middle Cerebellar Peduncle Hyperintensities Without Hot-Cross-Bun Sign

Hak-In Lee ,  Eunjin Kwon ,  Eungseok Oh 외 1명

Journal of Clinical Neurology

2024 .05

요추 추간판 탈출증을 동반한 산발성 소뇌 운동실조 환자에 대한 한방치험 증례보고 1례

서혜진 ,  강아현 ,  한동근 외 6명

대한한방내과학회지

2018 .01

The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

김지선 ,  권순욱 ,  기창석 외 2명

Journal of Clinical Neurology

2018 .01

Preliminary Clinical Trial of Balance Compensation System for Improvement of Balance in Patients With Spinocerebellar Ataxia

Ji Seon Hong ,  Ji Hyun Kim ,  Sang Yeol Yong 외 6명

Annals of Rehabilitation Medicine

2020 .01

The role of de novo variants in complex and rare diseases pathogenesis

Rahman ,  Mahi ,  Lee 외 4명

Journal of genetic medicine

2015 .01

Effect of Korean Red Ginseng on the motor performance and ataxia

Seunghyun Lee ,  Ye ,  i Won 외 1명

Journal of Ginseng Research

2024 .07

Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

Jang ,  Min Jeong ,  Lee 외 3명

Journal of genetic medicine

2018 .01

The Rise of Cerebellar Ataxia in South Korea: 2002–2016

박윤아 ,  박건우

Journal of Clinical Neurology

2020 .01

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

김희정 ,  김순기 ,  유기영 외 5명

Annals of Laboratory Medicine

2019 .01

De novo Leukemic Variant of Mast Cell Leukemia With KIT D816V

방해인 ,  박노진 ,  원종호 외 6명

Annals of Laboratory Medicine

2015 .01