X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene

Lee ,  Jong-Mok ,  Shin 외 1명

Journal of genetic medicine

2018 .01

Misunderstanding of Foot Drop in a Patient with Charcot-Marie-Tooth Disease and Lumbar Disk Herniation

Han ,  Youngmin ,  Kim 외 5명

대한신경외과학회지

2015 .01

하지통증을 호소하는 샤르코마리투스 질환 환자에 대한 복합적 한방처치 1례

문희영 ,  류광현 ,  추원정 외 5명

대한한방내과학회지

2018 .01

Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China

Shu-Yan Feng ,  Shu-Man Feng ,  Liu-Yi Li 외 1명

Journal of Clinical Neurology

2018 .01

A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A

Sa-Yoon Kang ,  Keun Hyuk Ko ,  Jung-Hwan Oh

Annals of Clinical Neurophysiology

2019 .01

Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department

Changho Kim ,  Jin-Sung Pa ,  k

Journal of Yeungnam Medical Science

2020 .01

Expression dissimilarities of distributional defect among different types of mutant genes and anatomical difference exhibited by adenoviral-mediated mouse model of Dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC)

Muwoong Kim ,  Junyang Jung ,  Youngbuhm Huh

대한체질인류학회 학술대회 연제 초록

2017 .06

Neuromuscular monitoring of a patient with Charcot-Marie-Tooth disease; which monitoring technique is adequate? - A case report and literature review -

김승운 ,  김서라 ,  Jung Ki Tae

Anesthesia and Pain Medicine

2024 .01

압박마비유전신경병의 비전형적인 진행 양상: 증례 보고

정희섭 ,  신희동 ,  이승화

대한근전도 전기진단의학회지

2021 .01

유전운동감각신경병(샤르코-마리-투스병)으로 진단된 환자의 수족부 감각장애에 대한 한방 치험 1례

전경륭 ,  조준호 ,  정택수 외 4명

대한한방내과학회지

2018 .01

Dental treatment in a patient with Charcot-Marie-Tooth disease and Guillain-Barre syndrome: A case report

Sang Mi Jo ,  Ko Eun Lee ,  Ok Hyung Nam 외 4명

International Journal of Disability and Oral Health

2020 .12

[S1-3] Application of zebrafish model to study peripheral nervous system disorders

Ji Eun Lee

한국실험동물학회 학술발표대회 논문집

2024 .07

지방흡입술 이후 발생한 양측 상완 신경총 손상으로 나타난 압박마비유전신경병 - 증례보고

이상윤 ,  김성우 ,  김형섭 외 1명

대한근전도 전기진단의학회지

2017 .01

Identification of Anti-Gerbich Antibody in an Emirati Marrow Hematopoietic Progenitor Cell Donor with Fy(a-b-) Phenotype

최승준 ,  이은경 ,  김신영 외 2명

Yonsei Medical Journal

2018 .01

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations

김현수 ,  김혜진 ,  남수현 외 6명

Journal of Clinical Neurology

2021 .01

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family

Yan Zheng ,  Fen Liu ,  Yao Yang 외 1명

Annals of Dermatology

2017 .01

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

최예지 ,  현영세 ,  남수현 외 4명

Journal of Clinical Neurology

2015 .01

샤르코 마리투스 병 환자의 족관절 통증에 대한 족관절 추나를 병행한 한의학적 치료 증례보고

김태윤 ,  한창 ,  이제균 외 4명

척추신경추나의학회지

2015 .01

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong ,  Sungwon ,  Lee 외 1명

Journal of genetic medicine

2018 .01

Mutation Analysis of the Dimer Forming Domain of the Caspase 8 Gene in Oral Submucous Fibrosis and Squamous Cell Carcinomas

Menon ,  Utha ,  a 외 15명

Asian Pacific journal of cancer prevention : APJCP

2015 .01