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Ann Indian Acad Neurol. 2020 May-Jun;23(3):386-387. doi: 10.4103/aian.AIAN_424_19. Epub 2020 Jun 10.
2
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本文引用的文献

1
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.一组中国遗传性痉挛性截瘫患者中SPG4和SPG3A基因的遗传分析。
J Neurol Sci. 2014 Dec 15;347(1-2):368-71. doi: 10.1016/j.jns.2014.10.017. Epub 2014 Oct 16.
2
Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.遗传性痉挛性截瘫：SPG10基因的一种新突变及表型变异性的扩展。
J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28.
3
Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.遗传性痉挛性截瘫：临床-遗传特征和不断演变的分子机制。
Exp Neurol. 2014 Nov;261:518-39. doi: 10.1016/j.expneurol.2014.06.011. Epub 2014 Jun 20.
4
Clinical features and management of hereditary spastic paraplegia.遗传性痉挛性截瘫的临床特征与管理
Arq Neuropsiquiatr. 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248.
5
Molecular aspects of hereditary spastic paraplegia.遗传性痉挛性截瘫的分子方面。
Exp Cell Res. 2014 Jul 1;325(1):18-26. doi: 10.1016/j.yexcr.2014.02.021. Epub 2014 Mar 11.
6
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.常染色体显性痉挛性截瘫：一项葡萄牙调查研究的 89 个家系综述。
JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956.
7
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.以脑性瘫痪为表现的新型SPG3A/atlastin突变的新发情况。
Arch Neurol. 2006 Mar;63(3):445-7. doi: 10.1001/archneur.63.3.445.

Familial Spastic Paraparesis: A Novel Mutation in a 4-Year-Old Girl.

作者信息

Singanamalla Bhanudeep, Kesavan Shivan, Saini Arushi G

机构信息

Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

出版信息

Ann Indian Acad Neurol. 2020 May-Jun;23(3):386-387. doi: 10.4103/aian.AIAN_424_19. Epub 2020 Jun 10.

DOI:10.4103/aian.AIAN_424_19
PMID:32606547
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313577/
Abstract
摘要