Pure or Complex Hereditary Spastic Paraplegia Type 4?

Josef Finste ,  e

Journal of Clinical Neurology

2019 .01

Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia

양지원 ,  서자영 ,  이광우 외 1명

Journal of Clinical Neurology

2019 .01

Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond

양지원 ,  서자영 ,  이광우 외 1명

Journal of Clinical Neurology

2019 .01

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia

박형준 ,  이명준 ,  이지은 외 2명

Journal of Clinical Neurology

2018 .01

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)

이형우 ,  라윤경 ,  나한규 외 3명

Journal of Clinical Neurology

2020 .01

Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid Protein

Hongda She ,  Xin Zheng ,  Yingxiu Xiao 외 5명

Journal of Clinical Neurology

2021 .01

Human serum albumin-based calpain 2 sensor is useful for detection of calpain 2 enriched NSCLC

Min Soo Kang ,  Seung-Hae Kwon ,  Taemin Wi 외 4명

한국실험동물학회 학술발표대회 논문집

2021 .07

Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr Variant

A ,  shad Faheem ,  Alladi Suva 외 3명

Dementia and Neurocognitive Disorders(대한치매학회지)

2022 .04

Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene

Sa-Yoon Kang ,  Joong Goo Kim ,  Jung Hwhan Oh

Annals of Clinical Neurophysiology

2020 .01

Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea

성원재 ,  김영은 ,  김승현

Journal of Clinical Neurology

2021 .01

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

최영철 ,  박형준 ,  장훈 외 8명

Yonsei Medical Journal

2016 .01

초기 척추관절병증과 혼동되었던 체간 근육의 위약을 동반한 근지대형 근디스트로피, 2A형: 증례 보고

권사라 ,  김대열

대한근전도 전기진단의학회지

2019 .01

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

이승준 ,  김은진 ,  조성임 외 8명

Annals of Laboratory Medicine

2018 .01

Hereditary cancer panel and clinical application

Hee-Chul Shin

대한외과학회 학술대회 초록집

2016 .11

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

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A

서수현 ,  김소연 ,  조성임 외 10명

Annals of Laboratory Medicine

2018 .01

Paraplegia Due to Aortic Occlusion from a Fungal Ball

P ,  ashant A. Natte ,  u 외 6명

Journal of Clinical Neurology

2021 .01

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .01