논문KCI 등재
Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid Protein
대한신경과학회 (Korean Neurological Association)|2021.01|Journal of Clinical Neurology|제17권 제1호|pp. 152-153
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참고문헌 (4)
- McDermott CJ, "Clinical features of hereditary spastic paraplegia due to spastin mutation", Neurology, 67, pp.45~51 (2006)
- Pham-Dinh D, "Pelizaeus-Merzbacher disease : a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid", Proc Natl Acad Sci U S A, 88, pp.7562~7566 (1991)
- Laurencin C, "A rare case of SPG11 mutation with multiple sclerosis", Rev Neurol(Paris), 172, pp.389~391 (2016)
- Mukai M, "Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis", Intern Med, 57, pp.3183~3186 (2018)
관련 논문AI추천
Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia박현미, 서자영, 양지원, 이광우대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제1호SPG4 유전자 변이에 의한 유전경직하반신마비를 보인 가족 1예김두응, 김정미, 박상은, 조은경, 조정선, 하상원, 한영수, 한정호대한임상신경생리학회 · Annals of Clinical Neurophysiology2005 · 제7권 제2호A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic ParaplegiaFei Xie, Si Chen, Wei Luo, Xiaosheng Zheng, You Chen, Zhidong Cen대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제2호Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond박현미, 서자영, 양지원, 이광우대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제2호Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report도현정, 오자영, 이승옥, 장대현, 장자현, 조은해대한재활의학회 · Annals of Rehabilitation Medicine2016 · 제40권 제6호Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr VariantAlladi Suvarna, Arshad Faheem, Kulanthaivelu Karthik대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2022 · 제21권 제2호
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