논문KCI 등재
Pure or Complex Hereditary Spastic Paraplegia Type 4?
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참고문헌 (8)
- 양지원, "Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia", Journal of Clinical Neurology, 15(1), pp.120~121 (2019), 대한신경과학회[DOI]
- De Bot ST, "Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients : new clinical aspects and 27 novel mutations", J Neurol Neurosurg Psychiatry, 81, pp.1073~1078 (2010)
- Kumar KR, "Peripheral neuropathy in hereditary spastic paraplegia due to spastin(SPG4)mutation--a neurophysiological study using excitability techniques", Clin Neurophysiol, 123, pp.1454~1459 (2012)
- Bertelli M, "Identification of a novel mutation in the spastin gene(SPG4)in an Italian family with hereditary spastic paresis", Panminerva Med, 48, pp.193~197 (2006)
- Nielsen JE, "Hereditary spastic paraplegia with cerebellar ataxia : a complex phenotype associated with a new SPG4 gene mutation", Eur J Neurol, 11, pp.817~824 (2004)
- Ribaï P, "Mental deficiency in three families with SPG4 spastic paraplegia", Eur J Hum Genet, 16, pp.97~104 (2008)
- Roeben B, "SERAC1 deficiency causes complicated HSP : evidence from a novel splice mutation in a large family", J Med Genet, 55, pp.39~47 (2018)
- Koh K, "JASPAC : Japan Spastic Paraplegia Research Consortium", Brain Sci, 8, pp.153~ (2018)
관련 논문AI추천
Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond박현미, 서자영, 양지원, 이광우대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제2호Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid ProteinAnthony Akkari, Frank Mastaglia, Hongda She, Jingshan Wu, Xin Zheng, Yingxiu Xiao대한신경과학회 · Journal of Clinical Neurology2021 · 제17권 제1호Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia박현미, 서자영, 양지원, 이광우대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제1호A 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 제2호SPG4 유전자 변이에 의한 유전경직하반신마비를 보인 가족 1예김두응, 김정미, 박상은, 조은경, 조정선, 하상원, 한영수, 한정호대한임상신경생리학회 · Annals of Clinical Neurophysiology2005 · 제7권 제2호Somatosensory Conduction Pathway in Spastic Paraplegia Type 5Alessandra Vanotti, Caterina Mariotti, Claudio Caccia, Daniela Di Bella, Davide Rossi Sebastiano, Dunja Duran, Elisa Sarto, Elisa Visani, Franco Taroni, Lorenzo Nanetti, Valerio Leoni대한신경과학회 · Journal of Clinical Neurology2014 · 제10권 제4호
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